AGBT 2012 Day 2 Tweets

(Day 1, Day 2, Day 3, Day 4)

Well not much in the way of huge announcements yesterday at AGBT. The biggest announcement was probably the information that Illumina are testing 400bp single-end reads in R&D on the MiSeq, with the longest achieved overlapping paired-read of 678bp. Pretty impressive stuff.

The other news was of course the announcement of the incredible sounding SHTseq(TM) from CrapBio which can produce 100Mb reads at 25% accuracy. This was announced at the parallel #notAGBT conference being held on Toll Island near Winson Green prison in Birmingham. But rumour has it a patent suit may be winging it's way to CrapBio already!!

Oh I should say, if you are at AGBT go and have a word with James Hadfield about our sequencer map in the afternoon poster session!

Right, so .. on with the show. Tweets will update automatically every couple of minutes but you'll have to refresh the page to see them.

Scientific agenda:

Plenary Session: Clinical Translation of Genomics, (Chad Nusbaum, Broad Institute of MIT and Harvard, Chair)
9:00-9:10 Opening Remarks
9:10-9:45 Keynote Speaker: Lynn Jorde, University of Utah School of Medicine, “Whole-genome Sequencing, Mutation Rates, and Disease-gene Detection.”
9:45-10:15 Heidi Rehm, Partners Healthcare Center for Personalized Genetic Medicine, “Supporting Large Scale Sequencing in a Clinical Environment”
10:15-10:45 Lisa Shaffer, Perkin Elmer, Inc., “A Genotype First Approach to the Identification of New Chromosomal Syndromes”
11:10-11:40 * Darrell Dinwiddie, Children's Mercy Hospital, “Initial Clinical Experience with Molecular Testing for >600 Severe Childhood Diseases by Target Enrichment and Next-Generation Sequencing”
11:40 am-12:10 * Rong Chen, Personalis Inc., “Type 2 Diabetes Risk Alleles Demonstrate Extreme Directional Differentiation Among Human Populations, Compared to Other Diseases”
1:10-2:40 Poster Session with Coffee & Dessert - Collier Hall

Plenary Session: Genomic Studies I (Len Pennacchio, Joint Genome Institute, Chair)
2:40-3:10 Goncalo Abecasis, University of Michigan “Sequencing Thousands of Human Genomes”
3:10-3:40 Ewan Birney, European Bioinformatics Institute, “ENCODE: Understanding Our Genome”
4:05-4:35 Charles Perou, The University of North Carolina at Chapel Hill, “Molecular Classification of Breast Tumors Using Gene Expression Profiling and Its Translation Into Clinical Practices”
4:35-5:05 * Arend Sidow, Stanford University, “Breast Cancer Progression From Earliest Lesions to Clinically Relevant Carcinoma Revealed by Deep Whole Genome Sequencing”
5:05-7:00 Pacific Biosciences Roundtable Discussion/Dinner


Most popular tweets
(35) girlscientist: Jorde: Male mutation rate is about 5X the female mutation rate. We males are responsible for most of the havoc in the human genome. #AGBT
(7) bffo: LJ: VAAST is a lot better than SIFT and ANNOVAR re: table 1 in VAAST paper: http://t.co/fkD51HzS #AGBT
(6) girlscientist: Lynn Jorde on to mutation rate estimation by sequencing and mass-spec. Each gamete contributes about 35 new variants. #AGBT
(6) girlscientist: Jorde: As a longtime human geneticist, I am especially happy to see that we are going back to families. Word. #AGBT
(5) iontorrent: Ion's first Human AmpliSeq Paired End (bi-directional) run on Ion Community. Corrected raw mean accuracy of 99.4% http://t.co/QA8CRt9u #agbt
(5) djschlesinger: Dinwiddie: 7043 mendialian diseases, 3328 with known molecular basis #AGBT
(5) Massgenomics: Summary of first day at #AGBT: http://t.co/IDALVCxP
(4) girlscientist: Rehm: shes's been told Myriad still detects 10-20 new missense variants in BRCA1/2 each week, even after testing 100's of 1000's ppl. #AGBT
(4) illumina: Real data from HiSeq 2500. Read the newest application note #AGBT #keepingitreal http://t.co/Dd5cvpU1
(4) nanopore: Curious about how to use nanopores to analyse proteins or miRNA? Go to our poster, Dr Dan Turner will tell all - poster 360 #AGBT
(3) CompleteGenomic: Today at #AGBT we announced our Biological Discovery Software Partners Program . Read more: http://t.co/nhsNsiDa
(3) schnablep: #AGBT Heidi Rehm,Supporting Large Scale Sequencing in a Clinical Environment genetic tests now available for ~2,500 diseases;
(3) MishaAngrist: MT @girlscientist: Rehm: Myriad still detects 10-20 new missense variants in BRCA each week, even after testing 100's of 1000's ppl. #AGBT
(3) genomeresearch: H Rehm: integrate vast amt of genetic info into patient care by storing millions of variants in electronic health records #AGBT
(3) illumina: Shaffer, Perkin Elmer. Many syndromes caused by chromosomal abnormalities cannot be IDd by NGS, instead need arrays. #AGBT
(3) djschlesinger: Dinwiddie: Sanger sequencing costs ~$10k testing for 1-10 diseases, ~$1k for 600 diseases using NGS #AGBT
(3) illumina: Dinwiddie: ~7k known mendelian diseases, 3k with known molecular basis. Together affect about 3-4% of children. #AGBT
(3) finchtalk: #AGBT Rong Chen, genetic risk map of the world http://t.co/XDad805M
(3) deannachurch: AG: Making the important point that the entire genome is not accessible to current sequencing technology. #AGBT
(3) gabecasis: Let's tweet about the design of Birney slides. Some look crowded. #AGBT #NoScience #TopSecret
(3) ElementoLab: #AGBT Ewan Birney: scoop: promoters exist and they are important
(3) EdgeBio: #AGBT Update #1 via @dgaalaas http://t.co/JdhzqtiF
(3) girlscientist: Shameless plug FTW! RT @genomeresearch: Breast cancer genomics now at #AGBT. For more, see special issue http://t.co/VRX3QPn0
(2) Personal_RX_WI: #AGBT. Look into the future of @Illumina. They have sequenced to 678 bp in house on MiSeq. Very interesting....
(2) illumina: New blog post from Abizar Lakdawalla with exclusive highlights of yesterday's Illumina User Group Meeting at #AGBT http://t.co/isP5PzDn
(2) girlscientist: Jorde found X-linked mutation http://t.co/VV034xOE while mother pregnant again, but couldn't comm. result since in non-CLIA lab. Sad. #AGBT
(2) bffo: Li "Males mostly responsible for mutation havoc" in human genome #agbt
(2) deannachurch: Heidi Rehm from Harvard Partners up next to talk about the sequencing in the clinical environment. #AGBT
(2) iontorrent: Average time to assess a novel variant - 21.5 to 119.6 min depending on other data/publications available for gene. Heidi Rehm #AGBT
(2) schnablep: #AGBT Heidi Rehm, 60-80% of clinically significant variants are found in only one family.

7 - 8am EST
+41m Personal_RX_WI: Day 2 of #agbt about to get started. First up @illumina talks followed by clinical genomics.
+58m stuka: I slept to the relaxing sounds of the ocean. No I didn't go to #AGBT, my people bought me a sound machine to helps w/ my not sleeping

8 - 9am EST
+3m CompleteGenomic: Today at #AGBT we announced our Biological Discovery Software Partners Program . Read more: http://t.co/nhsNsiDa
+15m djschlesinger: Up first, more on the upgrades to the HiSeq and MiSeq from Illumina #AGBT
+17m westr: RT @CompleteGenomic: Today at #AGBT we announced our Biological Discovery Software Partners Program . Read more: http://t.co/XWAsGO9J #pm101
+19m ING_SYS: Ingenuity will be part of IGN for new Illumina Cancer Analysis Service http://t.co/ZZxzu8wb learn more #AGBT Lanai 179
+22m ING_SYS: Ingenuity to work with Complete Genomics for new Genomics Discovery Program http://t.co/UTb7mfHc learn more #AGBT Lanai 179
+23m ezequiel_coelho: Thanks guys at #AGBT, for all your postings. For all of us who cannot be there, this is really helpfull
+23m djschlesinger: HiSeq 1500 is same as 2500 with single lane flow cell. #AGBT - what's the point?
+25m Massgenomics: Breakfast at AGBT. First session will be "Clinical Translation of Genomics" chaired by Chad Nusbaum of the Broad Institute.
+25m maureen_mack: @Personal_RX_WI tweeting latest and greatest from world of #agbt have fun Jaime and Mike!
+25m djschlesinger: HiSeq 1500 will be fully upgradeable to 2500 #AGBT
+29m jacquimiller: @pathogenomenick super useful wrap up of #AGBT tweets. thanks! http://t.co/8L9ZzJtm
+30m iontorrent: Ion's first Human AmpliSeq Paired End (bi-directional) run on Ion Community. Corrected raw mean accuracy of 99.4% http://t.co/QA8CRt9u #agbt
+37m iontorrent: Be the first to see the Ion Proton Sequencer at AGBT. Drop Life Genetic Analysis Showcase, Lanai Suite 185 at AGBT http://t.co/7l6VxwDZ
+45m djschlesinger: MiSeq improvements will require hardware upgrades for dual surface imaging and faster PC, no cost to existing MiSeq owners #AGBT
+45m ING_SYS: Accurate biological interpretation is critical to efficiently identify causal variants http://t.co/UTb7mfHc learn more #AGBT Lanai 179
+51m ING_SYS: #AGBT the place to be: Complete Suite in the Everglades Room from 5-7 p.m. tonight! http://t.co/UTb7mfHc
+54m salisburymw: Whatever happened to easing in to #agbt? Late parties 1st night, hangovers start early!
+54m girlscientist: Awaiting the start of #AGBT 2012. Don't forget the tweetup Fri night at the hotel bar!
+58m Single_Molecule: I will be at my AGBT poster (#352) today, 1-240 PM. "Detection of Structural Variations Using Nanodetector Positional Sequencing" @nabsys
+59m EdgeBio: RT @agxp: Are you at AGBT#? Learn about our partnership with @EdgeBio during today poster session!

9 - 10am EST
+2m Personal_RX_WI: #AGBT. Look into the future of @Illumina. They have sequenced to 678 bp in house on MiSeq. Very interesting....
+4m bioinfophd: Excited to be at #AGBT
+5m deannachurch: Getting ready for Lynn Jorde opening up the first #AGBT session on whole genome sequencing and finding disease causing mutations.
+5m bioinfophd: Be sure to check out #AGBT poster 38 to learn more about using RNA-seq to identify alternative splicing associated with chronic lung disease
+7m ElementoLab: #AGBT Lynn Jorde: WGS and disease causing mutations
+8m genomeresearch: #genomeresearch at #AGBT 2012 Lynn Jorde using whole genome sequence data to estimate mutation rate
+9m ElementoLab: #AGBT LJ: what is the human mutation rate ?
+9m bffo: good tweet policy at #AGBT http://t.co/m0T5YsLp (default == tweetable, just say "no tweet" if you don't want your talk tweeted #openess
+11m finchtalk: #AGBT Lynn Jorde estimating human mutation rate. JBS Haldane, first recognized the importance of de novo mutation rates
+11m dgaalaas: Welcome to #AGBT . Conference starting now with Lynn Jorde of Univ Utah Sch of Med
+11m ElementoLab: #AGBT LJ: studies Miller syndrome, 1 family of 4
+11m ElementoLab: #AGBT LJ: craniofacial deformation, missing digits, short arms etc
+12m richardbadge: Enjoying the anticipation of #AGBT meeting start, but must remember to go to BEER (Bioinformatics Expertise Enabling Research) meeting soon!
+12m ElementoLab: #AGBT LJ: only 2 reccurrent Miller families in the world
+13m ElementoLab: #AGBT LJ: 7 individuals = 25% of affected patients
+13m bioinfosm: @neilhall_uk of course, I was talking about sour grapes for the #agbt folks ;)
+14m ElementoLab: #AGBT LJ: Miller family also had lung disease, gene not clear
+15m ElementoLab: #AGBT LJ: Miller syndrome exome seq => mutations in DHODH
+15m pathogenomenick: OK you guys, #AGBT tweets from day 2 being streamed to the blog http://t.co/SGK6XrBj including exciting "popular tweets" feature!
+16m ElementoLab: #AGBT LJ: also mutation in DNAH5 which explain lung disease
+16m NorthernAutumn: Lynne Jorde Miller Syn 2recurrent families in world. 1 family w recurrence had cousin w/CF, clue to gt cause? But mat CFTR normal #AGBT
+16m ElementoLab: #AGBT LJ: both chidren inhnerited 5 disease mutations !
+18m NorthernAutumn: Lynne Jorde Miller Syn so did WGS on recurrent family & found at least 5 novel muts in each. #AGBT
+18m ElementoLab: #AGBT LJ: also estimated mutation rate from data ... needed to reseq all 34K Mendelian inheritance errors
+18m ElementoLab: #AGBT LJ: only 28 were true by capture + reseq
+19m girlscientist: Lynn Jorde on to mutation rate estimation by sequencing and mass-spec. Each gamete contributes about 35 new variants. #AGBT
+19m illumina: Good morning #AGBT! Kicking off the day with a session about HiSeq 2500 and MiSeq in our Illumina Lounge. http://t.co/uzdfUm54
+20m ElementoLab: #AGBT LJ: 1.1 e-8 mutation rate
+20m NorthernAutumn: Lynne Jorde Mutation Rate estimation estimated 35 new variants/gamete in his calculations. 1K genome Proj had similar estimates. #AGBT
+20m ElementoLab: #AGBT LJ: estimate agrees with 1000 genome estimates on trios
+21m ElementoLab: #AGBT LJ: all in 1 tool to analyze variants: VAAST
+21m deannachurch: LJ: Discussing using the VAAST software for variant analysis: http://t.co/shKTT16X #AGBT
+22m ElementoLab: #AGBT LJ: VAAST compares variants to dbSNP, 1KG
+22m ElementoLab: #AGBT LJ: gene by gene analysis, fewer tests
+22m ElementoLab: #AGBT LJ: can incorporate pedigree data in latest version
+22m bioinfosm: #agbt Lynn Jorde talks about vaast that identifies disease-causing variants on a gene-by-gene basis; and could use pedigree info #ngs
+23m ElementoLab: #AGBT LJ: uses composite likelihood ratio test, null= variant does not cause disease
+23m NorthernAutumn: Lynne Jorde developed VAAST Variant Anotation Analysis & Selection Tool. Compare patient seq w/variant seq & freq in multiple db. #AGBT
+23m ElementoLab: #AGBT LJ: exome published in Ng et al 2010 (DHODH)
+24m bffo: #AGBT VAAST http://t.co/kyql87hi from the Yandell lab : Variant Annotation, Analysis and Search Tool #bioinformatics
+24m bioinfosm: #agbt tweeps; there is an #ngs twibe = http://t.co/kLjN2XXG for next-gen seq discussions;
+24m ElementoLab: #AGBT LJ: VAAST identified ONLY 2 causal variants from WGS
+24m schnablep: #AGBT Lynn Jorde: Mutation detection via WGS using #VAAST (Yandell et al., Genome Res 2011); exploits pedigree data thereby improving calls
+24m finchtalk: #AGBT LJ on VAAST, shows statistical model, but says too early in the morning to be tortured with math
+24m NorthernAutumn: Lynne Jorde VAAST simplified results fr Millet Syn WGS to 2 candidate genes #AGBT
+25m ElementoLab: #AGBT LJ: used VAAST on unknown lethal X linked condition, 1 family
+25m ElementoLab: #AGBT LJ: progeria like features
+25m ElementoLab: #AGBT LJ: VAAST identified disease causing locus in 20 mins, on X chrom
+26m ElementoLab: #AGBT LJ: brand new genetic disease, named Ogden syndrome
+26m ElementoLab: #AGBT LJ: mutation in NAA10 N-acetyltransferase
+26m illumina: New blog post from Abizar Lakdawalla with exclusive highlights of yesterday's Illumina User Group Meeting at #AGBT http://t.co/isP5PzDn
+27m NorthernAutumn: Lynne Jorde VAAST analysis of novel x-linked. Exome-Seq & VAAST in 20 min identified mut in NAA10 cause of new gt disease Ogden Syn #AGBT
+27m ElementoLab: #AGBT LJ: mother was 5 mo pregnant when diagnostic came up
+27m iontorrent: Mutation in NAA10 causes a new genetic disease: "Ogden syndrome". Lynn Jorde #VAAST #AGBT
+27m ElementoLab: #AGBT LJ: could not tell her because not CLIA and child died
+28m genomeresearch: L Jorde discusses VAAST, which identifies disease-causing variants #AGBT http://t.co/ee8MrtR4
+28m NorthernAutumn: Lynne Jordan Discovered mother was pregnant with Ogden-affected fetus but couldn't inform her of result b/c test not done in CLIA lab #AGBT
+28m ElementoLab: #AGBT LJ: NAA10 in second family
+28m ElementoLab: #AGBT LJ: independent mutations, families unrelated
+29m ElementoLab: #AGBT LJ: VAAST increases power to detect NOD2 mutation in Crohn cohort
+30m ElementoLab: #AGBT LJ: increased power due to additional information used (BLOSUM etc)
+30m fluidigm: For Targeted Resequencing and Single Cell Studies stop by Suite 285 at #AGBT, let us show you what we got!
+30m NorthernAutumn: Lynne Jorde Used VAAST to detect NOD2 mut in Crohns disease cohort of 300 cases & ctrls. Example of VAAST in common complex disease #AGBT
+30m girlscientist: Jorde found X-linked mutation http://t.co/VV034xOE while mother pregnant again, but couldn't comm. result since in non-CLIA lab. Sad. #AGBT
+30m ElementoLab: #AGBT LJ: another condition with cardiac septal defects, identified GATA4 using VAAST
+31m MishaAngrist: MT @girlscientist: Jorde found X-linked mutation http://t.co/O0MDstRR but couldn't comm. result since in non-CLIA lab. Sad. #AGBT
+31m ElementoLab: #AGBT LJ: VAAST adds pedigree term to LOD
+32m NorthernAutumn: Lynne Jorde VAAST in single muti-generational family w dilated cardiomyopathy by adding LOD scores in new 'pedigree VAAST' #AGBT
+32m bioinfosm: #agbt LJ: power of vaast increases by more than an order of magnitude on using more control genomes #ngs #bioinformatics
+32m ElementoLab: #AGBT LJ: esimated male specific mutation rate
+33m ElementoLab: #AGBT LJ: 2.0e-8 per base pr generation
+33m NorthernAutumn: Lynne Jorde Power of pedigree #VAAST increases as more control genome assembled. #AGBT
+33m ElementoLab: #AGBT LJ: twice as high as average mutation rate, 5 times female
+34m ElementoLab: #AGBT LJ: males are responsible for most havoc in human genome (joke)
+34m girlscientist: Jorde: Male mutation rate is about 5X the female mutation rate. We males are responsible for most of the havoc in the human genome. #AGBT
+34m NorthernAutumn: Lynne Jorde 'Males responsible for most of havoc in human genome' b/c mut rate 5x that of female rate #AGBT
+35m ElementoLab: #AGBT LJ: Haldane was pretty close with not seq tools, two-fold difference only
+35m ElementoLab: #AGBT LJ: Haldane also found male rate 10 times higher than female
+35m girlscientist: Jorde goes old-skool and points out Haldane in 1947 suggested male mut rate was up to 10X higher; now supported by data. #AGBT
+36m ElementoLab: #AGBT LJ: how do you explain variation in mutation rates is question that can be addressed
+36m NorthernAutumn: Lynn Jorde new q? Direct effect of paternal age on male mutation rate #AGBT
+36m bffo: Li "Males mostly responsible for mutation havoc" in human genome #agbt
+37m bioinfosm: is the hashtag case sensitive!! #agbt is not same as #AGBT ?
+37m girlscientist: Jorde: As a longtime human geneticist, I am especially happy to see that we are going back to families. Word. #AGBT
+38m ElementoLab: #AGBT LJ: question: structural variation rate ?
+38m ElementoLab: #AGBT LJ: deletions might be more common in female transmission
+39m GenomeBiology: Lynn Jorde discusses VAAST. A powerful tool for detecting mutations #agbt
+39m djschlesinger: Lynn Jorde gave very inspiring talk on identification of causative variants in WGS data. Very cool. #AGBT #VAAST
+39m geniachip: Lynne Jorde, Univ of Utah: WGS providing consistent estimates of the human mutation rate. WGS / VAAST id's disease causing mutations; #AGBT
+40m djschlesinger: Heidi Rehm from Partners Healthcare up next to talk about large scale sequencing in a clinical lab #agbt
+40m MishaAngrist: kinda wish i were at #agbt
+41m ElementoLab: #AGBT LJ: male gametes have undergone more meioses which explains higher mutation rate
+41m eperlste: Kudos to all tweeting from #AGBT! This is what good conference tweeting looks like. Non-genetics biologists please watch and learn.
+42m deannachurch: Heidi Rehm from Harvard Partners up next to talk about the sequencing in the clinical environment. #AGBT
+42m ElementoLab: #AGBT Heidi Rehm: CLIA lab prospective for using seq in clinical applications
+43m girlscientist: well here you go, Heidi Rehm starts off with "I was asked to give the CLIA lab perspective on testing." #AGBT
+43m NorthernAutumn: Lynn Jorde males have higher mut rate b/c spermatogonia contly undergoing spermatogensis, so 50 year old male has had 800 divisions #AGBT
+43m illumina: Lynne Jorde: #VAAST for funct impact of amino acid changes, disease causing variants, pedigree info. Uses comp likelihood ratio test #AGBT
+43m ElementoLab: #AGBT HR: her lab offers > 150 tests, testing in large multigene panels
+44m bffo: LJ: VAAST is a lot better than SIFT and ANNOVAR re: table 1 in VAAST paper: http://t.co/fkD51HzS #AGBT
+44m omespeak: Quick look at nanopore abstracts from Oxford Nano & Gundlach confirms my suspicion that polymerase will be used to ratchet DNA. #AGBT
+44m djschlesinger: Heidi Rehm shows graph from GeneTests showing how fast clinical sequencing tests are being developed over the past decade #agbt
+45m finchtalk: #AGBT Heidi Rehm, NGS in a CLIA lab. 2500 diseases being testes. Striking feature is the increase in content / test
+45m schnablep: #AGBT Heidi Rehm,Supporting Large Scale Sequencing in a Clinical Environment genetic tests now available for ~2,500 diseases;
+46m ElementoLab: #AGBT HR: 5 years ago launched HCM cardiochip panel
+46m omespeak: RT @finchtalk: #AGBT Heidi Rehm, NGS in a CLIA lab. 2500 diseases being testes. Striking feature is the increase in content / test
+47m ElementoLab: #AGBT HR: GLA variant is actionable (Fabri disease? did not get the name)
+48m NorthernAutumn: @Affymetrix Heidi Rehm discussing gene tests on Affy arrays @ #AGBT
+48m ElementoLab: #AGBT HR: 1 chip multiple genes, test for many genes, diagnose unexpected conditions
+48m ElementoLab: #AGBT HR: example with Hearing Loss and Usher syndrome; would not have tested both together without chip
+49m djschlesinger: Heidi Rehm says very few families opt for prenatal genetic testing for hearing loss #AGBT - I'm surprised that it's even offered
+49m deannachurch: HR: Clinical labs still have to confirm variants identified by NGS- by Sanger. #AGBT
+50m ElementoLab: #AGBT HR: they need 95% coverage of gene regions
+50m NorthernAutumn: Heidi Rehm accepted standard for clinical labs is to confirm NGS b/c of possibility of mixed samples & to fully cover missing info #AGBT
+50m ElementoLab: #AGBT HR: 80% not enough
+50m bioinfosm: #agbt Rehm talks about sample mixup possibilities with ngs (many manual steps) so sanger validation for all cases
+51m ElementoLab: #AGBT HR: 20X coverage is their cutoff
+51m finchtalk: #AGBT HR still Sanger sequence to confirm results from NGS. Variant DB integrated into the workflow in real time.
+51m ElementoLab: #AGBT HR: converted OtoChip to OtoGenome
+52m schnablep: #AGBT Heidi Rehm, Multi-gene tests now widely available (e.g., OtoChip for hearing loss); they Sanger confirm positive NGS results
+52m NorthernAutumn: Heidi Rehm mostly use Sanger Seq for confirmation of novel variants #AGBT
+52m ElementoLab: #AGBT HR: confirmatory Sanger seq assays bottleneck
+52m girlscientist: Rehm: moved their OtoChip array test to OtoGenome test. Bottleneck = Sanger confirmation for 1000+ potential muts ID'd by test. #AGBT
+53m ElementoLab: #AGBT HR: 99.5% sensitivity for OtoGenome w SNVs, indels not as good
+53m bioinfosm: @Massgenomics Dan good to see you on twitter.. will try to catch you at #agbt
+54m girlscientist: Rehm: other bottleneck is novel variant assessment. When they launched pan-cariomyopathy NGS test, they started drowning in this. #AGBT
+54m ElementoLab: #AGBT HR: continuously need to add novel variants in database
+54m iontorrent: Average time to assess a novel variant - 21.5 to 119.6 min depending on other data/publications available for gene. Heidi Rehm #AGBT
+55m schnablep: #AGBT Challenge of novel variant assessment in targeted clinical assays (lots of manual searches, 21-120 min/variant)
+55m bioinfosm: #agbt HR: Novel Variant Assessment is 21 to 120mins given a single post-doc or phd person looking at that variant!!
+55m obahcall: Opening talk at #AGBT: Lynn Jorde speaks on direct estimates human mutation rate using whole genome seq data
+56m finchtalk: #AGBT HR board certification requires measure the time it takes to assess novel variants, about 2-3 hrs.
+56m djschlesinger: Heidi Rehm - 17% of variants they detect are novel #AGBT
+56m ElementoLab: #AGBT HR: 10-20 BRCA1 new variants each week ... keeping up w novel variants is a challenge
+56m bioinfosm: #agbt HR: HCM mutations from 2000 cases tested, >60% are unique to a family
+57m girlscientist: Rehm: shes's been told Myriad still detects 10-20 new missense variants in BRCA1/2 each week, even after testing 100's of 1000's ppl. #AGBT
+57m finchtalk: #AGBT HR now showing the huge number of novel variants that are unique to families.
+57m ElementoLab: #AGBT HR: dbSNP is mostly unannotated; problem is small control pop which leads to biased frequencies
+58m NorthernAutumn: Heidi Rehm 66 to 88% of clinically significant variants seen only in 1 family, depending on disease (88% of hearing loss for example) #AGBT
+58m genomeresearch: "game's not over yet for most genes" still so many unique muts MT @girlscientist: Rehm: other bottleneck is novel variant assessment. #AGBT
+58m ElementoLab: #AGBT HR: wants to create a universal human genomic mutation database
+58m omespeak: Most annotated genomic data in public domain is mostly wrong! Heidi Rehm. #AGBT
+58m schnablep: #AGBT Heidi Rehm, 60-80% of clinically significant variants are found in only one family.
+58m deannachurch: HR: Need to get more clinical annotation on variation in the public domain- not much data is there and some of what is there is wrong. #AGBT
+59m obahcall: Heidi Rehm speaks on sequencing in clinical environment at #AGBT
+59m ElementoLab: #AGBT HR: can be hard to discriminate clinical grade variants from non clinical grade

10 - 11am EST
+0m djschlesinger: Heidi Rehm proposing one variant database with varying levels of annotation #AGBT - great idea
+0m NorthernAutumn: Heidi Rehm has grant to create universal human mutation db so can lower mistake in public db that lead to overestimates of effects #AGBT
+0m bongopondit: This will be a huge undertaking, but very useful. RT @ElementoLab: #AGBT HR: wants to create a universal human genomic mutation database
+0m fluidigm: PREPARE amplicons for sequencing on all major next-generation sequencing systems. Learn more in Suite 285. #AGBT
+0m girlscientist: Rehm: debate on creating databases for clinical genetic data. She favors putting all into one database and marking w/curation level. #AGBT
+0m ElementoLab: #AGBT HR: many labs have agreed to share their curated variant data
+1m omespeak: Initially 9 different disease areas will be the focus of the curated variant data being developed by Rehm. #AGBT
+1m ElementoLab: #AGBT HR: GeneInsight Suite to provide genetic reports, published in Human Mutation
+1m geniachip: Heidi Rehm: dbSNP contains lots of data, but most unannotated. Need curated data in public domain! #AGBT
+2m MishaAngrist: MT @girlscientist: Rehm: Myriad still detects 10-20 new missense variants in BRCA each week, even after testing 100's of 1000's ppl. #AGBT
+2m spurim: Don't miss! Agilent's Luncheon session today as 12:10pm @ Palms Ballroom. Amazing speakers from OICR, Hubrecht, Erasmus MC! #AGBT
+2m omespeak: Variant classification changes - ~300 category changes overs the last few years. #AGBT
+2m ElementoLab: #AGBT HR: has a paper acceped about changse in variant clinical annotation in Genetics in Medicine
+3m obahcall: Rehm: discusses creating single database for clinical data, with tiered levels of curation #AGBT
+3m ElementoLab: #AGBT HR: shows a GeneInsight report screenshot
+3m NorthernAutumn: Heidi Rehm new universal human mutation db entries have levels of curation from expert 2 uncurated 2 reflect confidence in each entry #AGBT
+3m geniachip: Heidi Rehm: Solution is one variant database with various levels of annotation. Has already signed up various labs to share data. #AGBT
+4m omespeak: Heidi Rehm - database interface (GeneInsight) will inform physicians about changes in variant classification. #AGBT
+4m illumina: Heidi Rehm, Seq from CLIA perspective U41 Grant for clinical data, not easily accessible, into public domain as clin grade variant db #AGBT
+4m ElementoLab: #AGBT HR: software FDA registered
+5m NorthernAutumn: Heidi Rehm future:patient genome variants stored & proactive warnings generated as new clinically actionable info is learned #AGBT
+5m genomeresearch: H Rehm: integrate vast amt of genetic info into patient care by storing millions of variants in electronic health records #AGBT
+6m ElementoLab: #AGBT HR: GeneInsight would be hub in network between labs, databases, etc
+6m omespeak: Best way to leverage WGS to patient care will be by integrating into electronic database. Heidi Rehm. #AGBT
+7m omespeak: Also, there needs to be networking between sequence providers, academic labs, hospitals all integrated into a central hub. Heidi Rehm. #AGBT
+7m illumina: Rehm: dbSNP data mostly un-annot'd for clinical sig, most annots wrong due to small ctrl pops. Clinical lab data not in public domain #AGBT
+7m ElementoLab: #AGBT HR: GeneInsight allows sharing data, including deidentified case history
+7m djschlesinger: Partners Healthcare is doing some incredible work bringing NGS to the clinic #AGBT
+8m GenomeBiology: Labs need to share clinical data more. Rehm's new infrastructure will allow this in real time #agbt
+8m illumina: Rehm: Avg time to asses a novel variant from NGS is approx 21-119 min (dbSNP, publications, etc., plus in silico assessments #AGBT
+8m mgollery: I wish I was at #AGBT to check out the latest in sequencing technology- http://t.co/V5kBRegM
+9m omespeak: Amazing presentation by Heidi Rehm. Glimpse into the future of genome-sequencing applications in clinics and patient healthcare #AGBT
+11m omespeak: Last two talks by Heidi Rehm & Lynn Jorde shows using WGS information to treat/prevent disease is challenging but bound to happen. #AGBT
+12m ElementoLab: #AGBT Lisa Shaffer: genotype first approach to id of new chromosomal syndromes
+12m djschlesinger: Lisa Shaffer from Perkin Elmer talking about using genotyping to identify new chromosomal syndromes #AGBT
+12m MishaAngrist: RT @omespeak: Last two talks show using WGS information to treat/prevent disease is challenging but bound to happen. #AGBT
+13m EdgeBio: #AGBT next up Lisa Shaffer from Perkin Elmer. New chromosomal syndrome IDs by genotype approach
+13m girlscientist: Lisa Shaffer: Im probably giving the only non-sequencing talk at the meeting" but chromosomes still relevant! Word again. #AGBT
+13m _Gugaa_pimentel: Hoje foi engra dmaais agbt conversando na aula de mat e a prof "quietos, se nao chamo o Davyd" UAHSAHSHHAHS
+13m ElementoLab: #AGBT Lisa Shaffer: took 100 years to link Down syndrome to chr21
+13m NorthernAutumn: Lisa Shaffer 1866 Down's first described as a syndrome but genetic etiology not described until 1950s #AGBT
+14m ElementoLab: #AGBT Lisa Shaffer: several syndromes due to 10Mb+ deletions
+15m westr: Second that! RT @geniachip: Heidi Rehm: dbSNP contains lots of data, but most unannotated. Need curated data in public domain! #AGBT
+16m ElementoLab: #AGBT Lisa Shaffer: talking about Potocki-Shaffer syndrome
+16m eperlste: Clinical application of WGS to human disease is awesome but let's not forget to bring model organism genetics into 21 century, too. #AGBT
+16m ElementoLab: #AGBT Lisa Shaffer: 27 individuals from 17 families reported, visible 11p deletions
+17m NorthernAutumn: Lisa Shaffer in 80 & 90s syndromes began to be recognized as caused contigous gene deletions. #AGBT
+19m ElementoLab: #AGBT Lisa Shaffer: was using genetic mapping, now uses microarray to characterize microdeletions
+19m NorthernAutumn: Lisa Shaffer 'back in the 90s we had to build our own maps'. Taking us back to the pre-genome era....ahh memories :) #AGBT
+20m ElementoLab: #AGBT Lisa Shaffer: has database of abnormal cases and deletions (Genoglyphix)
+20m GMiadydiz: @_CaiioSilva kkkkkkk qualque dia agbt tira amr *-*
+21m illumina: Shaffer, Perkin Elmer. Many syndromes caused by chromosomal abnormalities cannot be IDd by NGS, instead need arrays. #AGBT
+21m ElementoLab: #AGBT Lisa Shaffer: can query by deletion region, will show you cases and syndroms in which it was previously found
+22m EdgeBio: #AGBT LS: Genoglyphix is a searchable database of abnormal cases
+23m ElementoLab: #AGBT Lisa Shaffer: example: 50 cases of del(1)q43q44, overlapping clinical features
+23m illumina: Shaffer: microarray analysis to id deletions. Database with 16k cases run on arrays, avail to researchers (Genoglyphix) #AGBT
+24m ElementoLab: #AGBT Lisa Shaffer: sometimes phenotypic features not obviously similar, but share same deletion
+25m schnablep: #AGBT Software (ERSA) mentioned by Lynn Jorde for estimating recent shared ancestry from sequence data: http://t.co/UqVtM76t
+25m Gavin_Oliver: Wondering how much tweaking VAAST would require to be useful for drug-response association and if this is planned future functionality #AGBT
+26m ElementoLab: #AGBT Lisa Shaffer: was not clear whether AKT3 involved in microcephaly
+26m ElementoLab: #AGBT Lisa Shaffer: her analysis of deletions in 22 microcephaly cases shows that AKT3 is the common gene
+27m westr: RT @GenomeBiology: Labs need to share clinical data more. Rehm's new infrastructure will allow this in real time #agbt #pm101
+27m NorthernAutumn: Lisa Shaffer has built db of 'gene deletion syndromes'. New patient presents - search db 2 find others w/similar phenotypes. #AGBT
+29m ElementoLab: #AGBT Lisa Shaffer: for agegenesis of corpus callosum phenotype, she found ZNF238 in minimal region of the del q43q44
+29m NorthernAutumn: Lisa Shaffer after identifying overlapping deletions b/w different patients can narrow candidate genes 4 follow up & confirmation #AGBT
+29m ElementoLab: #AGBT Lisa Shaffer: 3 genes in minimal region q43q44 for seizure phenotype
+30m ElementoLab: #AGBT Lisa Shaffer: 1 in 3 genes in critical region is HNRPU, predicted to be haploinsufficient
+32m EdgeBio: #AGBT LS: phenotypic characteristics may be subtle and variable so genotype might be only way to group and identify syndrome
+33m ElementoLab: #AGBT Lisa Shaffer: array based genotyping faster than NGS
+36m illumina: Shaffer, Whole genome arrays, small deletions can be ID'd in many patients, and overlap to find critical regions for phenotype #AGBT
+36m ElementoLab: #AGBT Lisa Shaffer: can go down to <1kb resolution by packing oligos
+39m SpunkyScientist: RT @illumina Shaffer, Perkin Elmer. Many syndromes caused by chromosomal abnormalities cannot be IDd by NGS, instead need arrays. #AGBT
+42m assemblathon: RT @djschlesinger: HiSeq 1500 will be fully upgradeable to 2500 #AGBT
+42m SpunkyScientist: RT @ElementoLab #AGBT Lisa Shaffer: array based genotyping faster than NGS
+58m zerojinx: All this talk of genotyping for new syndromes takes me back to DECIPHER https://t.co/r9FTY3T3 . Take that and add NGS. (See also DDD) #agbt

11 - 12pm EST
+0m AgilentLife: Edwin Cuppen- Hubrecht Institute and Willem van IJcken- Erasmus MC will speak at our Featured Luncheon today at 12:10 Palms Ballroom. #AGBT
+2m bkmacy: @illumina + @ING_SYS working together to deliver the most accurate data, analysis and interpretation for cancer studies, #AGBT
+11m bkmacy: Dr. van der Spek's work with @CompleteGenomic and @ING_SYS resulted in the ID of a novel causal variant for craniosynostosis, #AGBT
+16m EdgeBio: #AGBT Darrell Dinwiddie, Children's Mercy talks about clinical testing of severe childhood diseases with target enrichment and NGS
+17m djschlesinger: Darrell Dinwiddie discussing a 600 gene panel at Children's Mercy Hospital #AGBT
+17m deannachurch: Darren Dinwiddie talking about clinical seq for >600 childhood diseases. #AGBT
+19m girlscientist: Children's Mercy Hospital, Pediatric Genomic Medicine, in Kansas City is hiring. See/contact Darrell Dinwiddie. #AGBT
+19m ElementoLab: #AGBT Darrell Dinwiddie: there are 7K Mendelian diseases
+20m djschlesinger: Dinwiddie: 7043 mendialian diseases, 3328 with known molecular basis #AGBT
+22m ElementoLab: #AGBT Darrell Dinwiddie: testing >600 disease at a time, $1000 per patient, 30K patients annually, turnaround 4 wks, 90% get diagnosis
+22m finchtalk: #AGBT Darrell Dinwiddie on pediatric medical sequencing. Diseases related to rare mutations are a reason many kids visit children's hosps.
+22m djschlesinger: Dinwiddie: Sanger sequencing costs ~$10k testing for 1-10 diseases, ~$1k for 600 diseases using NGS #AGBT
+23m ElementoLab: #AGBT Darrell Dinwiddie: semi automated 96 samples testing platform
+24m bongopondit: Dinwiddie - expecting that genomic medicine will reduce cost by 10x, look at 60x more diseases, 10x increase in patients tested. #AGBT
+24m NorthernAutumn: Dinwiddie advocating testing for all recessive diseases (in kids) to save $, time and help get right treatment @ right time. #AGBT
+24m ElementoLab: #AGBT Darrell Dinwiddie: testing 8K genomic regions, 526 genes
+24m cheyennexo3: AGBT
+24m ElementoLab: #AGBT Darrell Dinwiddie: 97.5% of targets have >16X coverage
+24m omespeak: Dinwiddie - expecting that genomic medicine will reduce cost by 10x, look at 60x more diseases, 10x increase in patients tested. #AGBT
+25m finchtalk: #AGBT DD current approaches cost $10k, sample few genes, have 50% success. Genome potential: sample 600 genes, $1000 cost, 90% success
+25m omespeak: Also, shorter turnaround time and almost 2-fold increase in diagnosis using genomic medicine vs traditional testing. Darrell Dinwiddie #AGBT
+25m genomeresearch: Estimation of recent shared ancestry (ERSA) also from L Jorde http://t.co/AzC6Plgf #AGBT
+25m ElementoLab: #AGBT Darrell Dinwiddie: for ethical reasons, they need to limit what they discover and report
+26m bongopondit: RT @ElementoLab: #AGBT Darrell Dinwiddie: for ethical reasons, they need to limit what they discover and report
+26m djschlesinger: Dinwiddie: need to limit what we look at in the genomes of children, don't look at carrier status #AGBT
+26m girlscientist: Dinwiddie going over ethics of genetic testing for children. They have created "orderly interface" to manage. Hmmm. #AGBT
+26m EdgeBio: #AGBT DD: test >600 diseases at once with a turnaround of 4 weeks and a diagnosis rate of 90%
+26m omespeak: RT @ElementoLab: #AGBT Darrell Dinwiddie: for ethical reasons, they need to limit what they discover and report
+26m NorthernAutumn: Dinwiddie test for over 600 diseases but do not report on adult onset carrier status as no benefit to child #AGBT
+27m ElementoLab: #AGBT Darrell Dinwiddie: showing screenshot of interface for ordering test
+27m girlscientist: whoops sorry that should have been "ordering interface" from Dinwiddie, based on phenotype /clinical findings. My typo! #AGBT
+27m ElementoLab: #AGBT Darrell Dinwiddie: need to enter clinical symptoms
+27m ElementoLab: #AGBT Darrell Dinwiddie: systems comes up with genes to test based on clinical features
+28m ElementoLab: #AGBT Darrell Dinwiddie: gene-feature matching based on SNOMED terms
+28m EdgeBio: #AGBT DD: target 526 genes + mt genome with Illumina TruSeq enrichment. Generate 4Gb of data per sample
+29m ElementoLab: #AGBT Darrell Dinwiddie: correct gene nominated in 286/290 test cases
+30m fluidigm: MULTIPLEX 96 different samples in a single sequencing run. Learn more in Suite 285. #AGBT
+30m ElementoLab: #AGBT Darrell Dinwiddie: align reads with GSNAP, can detect up to 10kb deletions, 60pb insertions
+30m CompleteGenomic: Catch our own Jason Laramie presenting on family-based studies, today in the #AGBT Complete Suite at 12:45 pm
+31m ElementoLab: #AGBT Darrell Dinwiddie: there are 6 ACMG categories of variants
+31m NorthernAutumn: Dinwiddie looked @ 290 patients who were referred to gene testing based on SNOMED and 286 got correct gene test based on symptoms #AGBT
+31m ElementoLab: #AGBT Darrell Dinwiddie: cat 1-4 presented in prioritized manner according to number of symptoms matched
+32m ElementoLab: #AGBT Darrell Dinwiddie: insertions and CNV account for 5-20% of disease causing variants
+33m ElementoLab: #AGBT Darrell Dinwiddie: looks for deletions by looking at local reduction in normalized aligned reads
+33m ElementoLab: #AGBT Darrell Dinwiddie: found a 966bp hets deletion in CLN3 this way
+33m illumina: Now #AGBT Darren Dinwiddie, Childrens Mercy Hospital, non-profit, 15k in-patient admiss, 335k outpatient visits, 144k urgent care visits
+33m NorthernAutumn: Dinwiddie 5-20% of disease caused by CNV but analysis pipelines have difficulty detecting #AGBT
+34m spurim: #AGBT Don't miss! Agilent's Luncheon session today as 12:10pm @ Palms Ballroom. Amazing speakers from OICR, Hubrecht, Erasmus MC!
+34m kimwhit: Advances in #Genome Biology and Technology(AGBT) day 1 tweets at http://t.co/bR8rDybi Thx @pathogenomenick @lexnederbragt
#genomics #in
+35m ElementoLab: #AGBT Darrell Dinwiddie: validation of 700 samples nearly complete
+35m omespeak: Darrell Dinwiddie: validating 700 samples, including ethnic diversity (very important IMO). #AGBT
+36m ElementoLab: #AGBT Darrell Dinwiddie: his first 2 patients, 5 years no molecular diagnosis, >$23K
+36m NorthernAutumn: Dinwiddie in midst of 3 phase clinical validation of their testing pipeline w/ 700 samples of varying ethnicities & disease status #AGBT
+36m ElementoLab: #AGBT Darrell Dinwiddie: found causal gene in APTX
+37m ElementoLab: #AGBT Darrell Dinwiddie: APTX is actionable, treatment with CoQ10 started
+37m bioinfosm: #agbt Dinwiddie from CMH: a patient for 5yr and >$23k tests with no diagnostic .. sanger confirmed APTX mutation found using #NGS
+39m NorthernAutumn: Dinwiddie Ex of where diagnosis has changed treatment (APTX caused coQ10 deficiency) & lead to child regaining mobility. Yay! #AGBT
+39m ElementoLab: #AGBT Darrell Dinwiddie: good question, how do you deal with genes with IP issues ?
+39m ElementoLab: #AGBT Darrell Dinwiddie: did not deal with that type of situation yet
+39m girlscientist: Chad Nusbaum asks Dinwiddie how they deal with gene testing in genes that have IP. Unfortunately, no clear answer. #AGBT
+40m EdgeBio: #AGBT DD on power of genomic medicine: first 2 patients that came to them had gone through $23K in testing over 5 yrs with no Dx...
+40m omespeak: They haven't dealt with it yet. RT @ElementoLab: #AGBT Darrell Dinwiddie: did not deal with that type of situation yet
+40m ElementoLab: #AGBT Rong Chen: published clinical assessment of Steve Quake's genome a few years ago
+40m bongopondit: They haven't dealt with it yet. RT @ElementoLab: #AGBT Darrell Dinwiddie: good question, how do you deal with genes with IP issues ?
+40m EdgeBio: #AGBT DD: Genomic Med was able to provide Dx and were able to start treatment
+41m MishaAngrist: RT @girlscientist: Chad Nusbaum asks Dinwiddie how they deal with gene testing in genes that have IP. Unfortunately, no clear answer. #AGBT
+41m illumina: Dinwiddie: Example, 2 patients, hospital for 5 yr spent $20K+ on neg genetic tests. NGS found a mut in APTX, conf w/ sanger. #AGBT
+42m omespeak: #AGBT Rong Chen: how to calculate genetic risk of a particular disease across populations through the world.
+42m ElementoLab: #AGBT Rong Chen: now working in type 2 diabetes
+42m NorthernAutumn: Rong Chen T2D genetic risk decreased as people migrated out of Africa till lowest risk in SE Asia and America #AGBT
+42m girlscientist: Rong Chen: showed graph from Eric Corona at Stanford with claim that T2D genetic risk decreased as human migrated over time. #AGBT
+43m ElementoLab: #AGBT Rong Chen: used Hapmap3, HGDP, Complete Genomics to find T2D risks
+44m ElementoLab: #AGBT Rong Chen: manually curated all disease associated SNPs from literature
+45m EdgeBio: Were excited to be at #AGBT w/ our partner @AGXP. Learn about this #genomics competition at todays poster session.
+45m ElementoLab: #AGBT Rong Chen: each SNP was annotated along 100+ features
+45m illumina: Dinwiddie: ~7k known mendelian diseases, 3k with known molecular basis. Together affect about 3-4% of children. #AGBT
+45m ElementoLab: #AGBT Rong Chen: >100,00 SNPs for 2400 diseases
+45m illumina: Dinwiddie: Why test for all recessive diseases? Timely Dx rules out diseases & avoid unnecessary treatments #AGBT
+45m ElementoLab: #AGBT Rong Chen: published in PLoS ONE 2 years ago
+46m ElementoLab: #AGBT Rong Chen: 12 replicated and haplotype independent SNPs for T2D
+46m NorthernAutumn: RongChen 2 interpret gt disease risk need 2 know risk alleles, pops studied, gt freq case:control & strand dir where risk alleles rep #AGBT
+46m omespeak: 12 independent SNPs for T2D replicated over five ethnic groups #Rong Chen #AGBT
+46m surt_lab: Thanks mom and dad :) MT @girlscientist Lynn Jorde : Each (human) gamete contributes about 35 new variants. #AGBT
+47m ElementoLab: #AGBT Rong Chen: several SNPs causal across several ethnic groups
+47m iontorrent: Check out the Ion Proton Sequencer at AGBT: http://t.co/wjGqu6cy via @youtube
+47m girlscientist: Rong Chen describing Personalis and their work on manual curation of SNPs as in this paper http://t.co/hjXtfkib #AGBT
+47m omespeak: T2D risk allele - highest frequency in African (inlc African-Amercans), lowest in Asian. Rong Chen #AGBT
+48m DNAsizing: Sweets in the suite. Covaris Candy Shop Now Open! Sage Science lanai 286 until 5 pm #AGBT
+49m ElementoLab: #AGBT Rong Chen: T2D risk allele frequencies decrease with igration
+49m ElementoLab: #AGBT Rong Chen: finding coming in plos genetics
+50m ElementoLab: #AGBT Rong Chen: T2D risk alleles show higher freq in SubSaharan Africa
+51m surt_lab: So JBS Haldane almost got it right #standingontheshouldersofgiants RT @ElementoLab: #AGBT LJ: 2.0e-8 per base pr generation
+51m ElementoLab: #AGBT Rong Chen: in prev tweet, igration -> migration
+52m ElementoLab: #AGBT Rong Chen: why would T2D risk freq decrease when humans migrate ?
+52m illumina: Rong Chen, Personalis, Manual curation of disease assoc SNPs from 800 pubs- Varimed (VARiants Informing Medicine) database #AGBT
+53m ElementoLab: #AGBT Rong Chen: mismatch bet genetic and environment upon migration ?
+53m ElementoLab: #AGBT Rong Chen: energy storage needs change ?
+53m ElementoLab: #AGBT Rong Chen: just hypotheses
+54m ElementoLab: #AGBT Rong Chen: calc a likelihood ratio of disease for personal genome from multiple allele risks
+55m NorthernAutumn: RongChen why T2D risk allele freq change w/human mig? Thrifty gene hypo:diff energy req when migrating OR mismatch b/w gene&enviro #AGBT
+57m CRIgenomics: James is now at #AGBT. The next four days should be fun.
+57m ElementoLab: #AGBT Rong Chen: genetic risk prediction consistent with known ethnic group different risks
+57m ElementoLab: #AGBT Rong Chen: have a Genetic Risk World Map web application
+58m omespeak: Mapping genetic risk of disease across the world: http://t.co/CSa06ZrX Rong Chen. #AGBT
+59m girlscientist: The map from Rong Chen et al. was covered as news in Science magazine here: http://t.co/WuhWZpsE #AGBT
+59m GenomeBiology: Genetic risk of T2D decreased as humans migrated from africa #agbt
+59m illumina: Rong Chen: T2D risk SNP, rs1196205_C-TCF7L2 highest in African pop. Why do daibetes risk alleles decrease when humans migrate? #AGBT
+59m NorthernAutumn: RongChen 'More GWAS in Africans and Indian Asians urgently needed.' #AGBT
+59m CRIgenomics: #AGBT Clinical Translation of Genomics session: Panels for targeted sequencing, pipelines for analysis of mutations, Sanger validation.
+59m finchtalk: #AGBT Rong Chen, genetic risk map of the world http://t.co/XDad805M
+59m omespeak: "More GWAS in diverse populations especially African and Indian Asian are *uregently* needed". Rong Chen (emphasis mine). #AGBT

12 - 1pm EST
+0m iontorrent: "More GWAS in diverse populations, especially African & Indian Asian are urgently needed" to accurately predict genetic risk Rong Chen #AGBT
+0m illumina: Rong Chen: More GWAS urgently needed in African and Indian asian populations. #AGBT
+1m Symbionticism: #AGBT pic. Ion Torrent has a well crafted presence. Not only a beach bus but coffee holders too. Well done. http://t.co/uB2ml7ua
+3m bffo: Rong Chen is .@rongchenbioinfo #agbt
+10m intrepidbio: "Non- and Synonymous Coding SNPs" http://t.co/ljEltFH1 by @RongChenBioinfo. We take both SNP & NGS data, @PersonalisInc. @ElementoLab #AGBT
+10m intrepidbio: "Non- and Synonymous Coding SNPs" http://t.co/ikdhHhei by @RongChenBioinfo. We take both SNP & NGS data, @PersonalisInc. @ElementoLab #AGBT
+12m westr: RT @illumina: Dinwiddie: ~7k known mendelian diseases, 3k with known molecular basis. Together affect about 3-4% of children. #AGBT #pm101
+13m westr: MT @ElementoLab: #AGBT Rong Chen: >100,000 SNPs for 2400 diseases #pm101
+14m westr: RT @illumina: Dinwiddie: Why test for all recessive diseases? Timely Dx rules out diseases & avoid unnecessary treatments #AGBT #pm101
+16m westr: RT @girlscientist Rong Chen describing Personalis & their work on manual curation of SNPs as in this paper http://t.co/7c83OUx0 #AGBT #pm101
+25m illumina: #AGBT poster 48 Enhanced RiboZero tech: Removal of rRNA & Improved RNA-Seq lib quality
+28m westr: RT @ElementoLab: #AGBT Rong Chen: calc a likelihood ratio of disease for personal genome from multiple allele risks #pm101 causal/protective
+30m illumina: #AGBT poster 119 PvuRts1I, MspI, & T4-betaGT: Tools for bisulfite-free ID of epigenetic cytosine modifications
+30m fluidigm: RT @EdgeBio Check out Views From Edge Blog: #AGBT Marco Island Never Gets Old @dgaalaas http://t.co/HgcXgIT2 >Nice synopsis of conference
+30m AgilentLife: Stop by to see Posters: 70, 108, 161 and 266 at the 1pm #AGBT Poster Session. Learn about #HaloPlex #Methyl-Seq & more http://t.co/ec5AzqGt
+35m westr: RT @omespeak: Mapping genetic risk of disease across the world: http://t.co/B2qiCGeE Rong Chen. #AGBT #pm101
+37m westr: RT @girlscientist: The map from Rong Chen et al. was covered as news in Science magazine here: http://t.co/FpknbiUw #AGBT #pm101
+41m agxp: Dont forget to learn more about our #genomics competition during todays poster session at #AGBT! 1:10 pm EST; poster 170.
+46m Medco: Are you attending #AGBT? Stop by the poster session today and tomorrow to learn more about Medco's sponsorship of the @AGXP!
+46m nygenome: For those at #AGBT, our first #nygenome poster session is about to begin. Find us in Collier Hall #173. http://t.co/95pn6py8
+49m nygenome: Gearing up for our #AGBT Feinstein Institute announcement & reception with @Ilumina at 5pm -- read more about it at http://t.co/0RWEkWlg
+50m LucigenCorp: Low bias, reduce chimera activity with NxSeq Technology. See Lucigen poster http://t.co/6l6KINCM @ #AGBT.
+53m intrepidbio: The map from @RongChenBioinfo etal. was covered as news in @sciencemagazine magazine here: http://t.co/cXjgv4KA #AGBT via @girlscientist.
+54m rtginvestigator: Emerging case evidence of clinical sequencing and genomic medicine #AGBT @Erika_Check @NatureNews http://t.co/4YDYgpvC
+58m ING_SYS: Don't be left out, see what everyone at #AGBT is talking about. Lanai Suite 179 Variant Analysis Demo. http://t.co/uF9DtjHI

1 - 2pm EST
+0m agxp: RT @completegenomic: Safe travels to everyone heading to #AGBT, we'll see you there!
+5m RainDanceTech: At #AGBT? Come by Lanai Suite #287 to see our new ThunderStorm System; the new standard in targeted sequencing. http://t.co/ObAtbF8l
+11m illumina: Real data from HiSeq 2500. Read the newest application note #AGBT #keepingitreal http://t.co/Dd5cvpU1
+16m NEBiolabs: Come check out a few posters by NEB scientists at the #AGBT poster sessions starting now in Collier Hall! http://t.co/sEdSZFDF
+17m GoldenHelixInc: #AGBT Hope to see you @CompleteGenomic reception with Dr. Christensen from Golden Helix at 5 pm tonight!
+20m EpicentreBio: Perspectives from the @Illumina User Group Meeting #AGBT http://t.co/4v1Gjzvv
+20m SEQanswers: Wow. Only 2 lanes/FC...and 39h for 2x151 run MT @illumina: Real data from HiSeq 2500. Read the newest app note #AGBT http://t.co/faj1P7Gq
+22m dnanexus: Come and join DNAnexus in the Complete Genomics Suite tonight 5-7 p.m. at #AGBT in the Everglades suite http://t.co/US5fPsFu
+24m EpicentreBio: MT @illumina: Real data from HiSeq 2500. Read the newest application note #AGBT http://t.co/umXEbRS9
+46m agxp: At AGBT conf.? Meet @XPRIZE Sr. Dir. Grant Campany @ poster location #170 now! #AGBT more at: http://t.co/UV2rUBaq http://t.co/iDcpE1TI
+46m nanopore: Curious about how to use nanopores to analyse proteins or miRNA? Go to our poster, Dr Dan Turner will tell all - poster 360 #AGBT
+54m pathogenomenick: @massgenomics Hey Dan, welcome to Twitter. Don't forget to use the AGBT hashtag in your tweets so people can find them easily!

2 - 3pm EST
+0m fluidigm: OBTAIN reads from both ends with single-read sequencing. Learn more in Suite 285. #AGBT
+2m CompleteGenomic: Dont miss Srinka Ghosh presenting on our Cancer Sequencing Service today in the #AGBT Complete Suite at 3:45 pm
+4m deannachurch: If you want to see software we are developing for exploring variant data, see me at #AGBT (in lower lobby near posters now).
+5m notSoJunkDNA: @girlscientist @nparmalee Check this out: http://t.co/b5uBCa0d #nygenome #AGBT
+18m lipscombe1: Seems to be quite a bit of platform sparring coming out #AGBT #DNA #Sequencing
+42m EdgeBio: #AGBT afternoon session about to kick off with Goncalo Abecasis from U of Mich talking about sequencing 1000s of human genomes.
+43m ElementoLab: #AGBT Goncalo Abecasis: sequencing to study complex traits
+43m ElementoLab: #AGBT Goncalo Abecasis: will use LDL genetics to illustrate quantitative trait genetics
+43m deannachurch: Annnnnnndddddd we're back: Goncalo Abecasis talking about sequencing 1000s of people. #AGBT
+44m Personal_RX_WI: #AGBT We just had lunch with the fine people at @Roche_com. Afternoon session of Genomic studies. Right now " Sequencing 1000s of Genomes"
+44m ElementoLab: #AGBT Goncalo Abecasis: several variants linked to low or high LDL levels
+46m ElementoLab: #AGBT Goncalo Abecasis: found GALNT2 in GWAS, not clear what link to HDL was initially
+47m ElementoLab: #AGBT Goncalo Abecasis: mouse studies show strong effect on HDL
+47m bioinfosm: #agbt Abecasis from UMich: found an older set of slides on sequencing 1000s of genomes = http://t.co/1AmtCB55 #ngs
+48m schnablep: #AGBT Goncalo Abecasis: Sequencing to decipher complex traits. Rare variants have on average larger effects than common variants.
+49m ElementoLab: #AGBT Goncalo Abecasis: talks about the amount of rare variation in human genome
+49m ElementoLab: #AGBT Goncalo Abecasis: 400K nonynonymous variants in NHLBI seq project, 57% found in 1 individual only
+50m westr: Gr8 choice! RT @ElementoLab: #AGBT Goncalo Abecasis: will use LDL genetics to illustrate quantitative trait genetics #pm101
+50m girlscientist: Goncalo Abecasis: early results from large exome seq project = 57% of variants seen are singletons. #AGBT
+52m ElementoLab: #AGBT Goncalo Abecasis: because there are so many rare variants, could explain a very large fraction of phenotypic variation
+53m ElementoLab: #AGBT Goncalo Abecasis: early results from NHLBI exome study
+53m ElementoLab: #AGBT Goncalo Abecasis: selected 400 individuals with extreme LDL levels
+55m ElementoLab: #AGBT Goncalo Abecasis: tally up all variants with max MAF in a given gene ... basically one test per gene
+56m ElementoLab: #AGBT Goncalo Abecasis: found a few potential associations this way
+56m illumina: Abecasis. Why study rare variants? From exome seq 12K individs, many rare functional vars.discovered. Non-syn muts at higher freq. #AGBT
+56m ElementoLab: #AGBT Goncalo Abecasis: SardiNIA WGS study
+56m obahcall: Goncalo Abecasis on sequencing from ESP and Sardinia at #AGBT
+57m ElementoLab: #AGBT Goncalo Abecasis: seq 1700+ individuals at >3.7X coverage
+58m ElementoLab: #AGBT Goncalo Abecasis: key is to select the individuals to sequence, e.g grandparents in families
+58m froggleston: Like cameraphones at gigs, I keep finding myself reading tweets about the talk I'm actually in. Sardinian rare variants! #agbt

3 - 4pm EST
+0m ElementoLab: #AGBT Goncalo Abecasis: draft genome of key individuals, genotype relatives, then association study
+1m illumina: Join us for a cocktail now through 7pm in the Illumina Lounge (Capri Ballroom 2/3), and chat with our experts. #AGBT
+1m ElementoLab: #AGBT Goncalo Abecasis: 1 locus was only found by sequencing Q39X in HBB
+2m ElementoLab: #AGBT Goncalo Abecasis: Q39X HBB protects from malaria in Sardinia
+2m lykkebak: Goncalo Abecasis talks about Sardinia sequence studies, whole genome sequencing #AGBT http://t.co/g5XJ5kFQ
+2m ElementoLab: #AGBT Goncalo Abecasis: other genes like APOE, APOB, SIRT1 etc previously found
+3m ElementoLab: #AGBT Goncalo Abecasis: HBB was missed on GWAS because in a region hard to impute, end of chromosome and very population specific
+4m lykkebak: Abecasis: How is sequencing progressing... #AGBT http://t.co/ZzYGAHuc
+4m nygenome: Thanks to all who attended our #AGBT poster session. We'll be back at Collier #173 Fri 4:30-6:00. http://t.co/95pn6py8 http://t.co/i6YhvRCv
+4m CompleteGenomic: Food, drink, demos and cheer -- tonight at the #AGBT Complete Suite from 5-7!
+4m pathogenomenick: Who are we expecting announcements from at #AGBT this year apart from @nanopore ?
+5m ElementoLab: #AGBT Goncalo Abecasis: benchmarked methods to call SNPs
+5m ElementoLab: #AGBT Goncalo Abecasis: each SNP calling method good at something, all methods good on average
+6m ElementoLab: #AGBT Goncalo Abecasis: consensus of 3 SNP calling methods worked bes, errors decreased by 40%
+6m deannachurch: GA: three calls sets on data, hard to say which was best (depends on metric) but taking the consensus set was the best. #AGBT
+7m ElementoLab: #AGBT Goncalo Abecasis: designed SVM-based classifiers to filter variants
+8m IanGoodhead: @pathogenomenick: What ever came of that ABI 3rd gen company? Was it Visigen? #AGBT
+8m deannachurch: AG: Making the important point that the entire genome is not accessible to current sequencing technology. #AGBT
+9m omespeak: RT @deannachurch: AG: Making the important point that the entire genome is not accessible to current sequencing technology. #AGBT
+9m obahcall: Abecasis: how much of the genome are we reaching with whole genome sequencing? #AGBT
+9m ElementoLab: #AGBT Goncalo Abecasis: now talking about 1000 Genomes, build integrated maps with SNPs, indels, dels
+9m ElementoLab: #AGBT Goncalo Abecasis: 98.5% SNPs validate, indels not as good
+9m deannachurch: AG: 1000genomes data, can validate 98.5% of SNPs but only 70% of indels. #AGBT
+10m ElementoLab: #AGBT Goncalo Abecasis: 10 samples account for 200K indel errors
+10m obahcall: Abecasis: estimate accessible 80-85%, in 2011 94-95% of reference #AGBT
+11m froggleston: Mediterranean low cholesterol down to genetics. Flora spread share price plummets. #agbt
+12m Massgenomics: Abecasis: Variant calling accuracy improves with more samples and when consensus of multiple callers is taken. #AGBT
+12m obahcall: Abecasis: the challenge of indels in 1KG.. .10 samples account for 5% of indels, very high indel error rate #AGBT
+13m deannachurch: Up next @ewanbirney to talk about the ENCODE project. #AGBT
+13m ElementoLab: #AGBT Ewan Birney: ENCODE project to annotate functional elements in human genome
+14m ElementoLab: #AGBT Ewan Birney: tweets not allowed
+14m deannachurch: @ewanbirney paper under review so can't tweet about science. #AGBT
+15m illumina: Abecasis, low pass sequencing of Sardinian population.By selecting 3 out of a family, can inform more thanks to inheritance. #AGBT
+15m nygenome: Thanks to all who attended our #AGBT poster session. We'll be back at Collier #173 Fri 4:30-6:00.... http://t.co/FUQJ2YIB
+15m girlscientist: Poor @ewanbirney has just told us that we can tweet his talk except not any science as paper is under review. #AGBT
+15m finchtalk: #AGBT Ewan Birney on super secrete encode project, no tweeting on the science.
+18m lykkebak: Nice to see a #DTU poster at #AGBT: The future of epidemiology is genomic... http://t.co/bwuqoD6M
+18m lykkebak: Ewan Birney: you can tweet, but please don't tweet any of the science... ;) ENCODE: Understanding Our Genome #AGBT http://t.co/r8w7h2eg
+18m PacBio: At #AGBT ? Come to Palms Ballroom at 5 PM for Tasty Dinner & Provocative Panel Chat led by Eric Schadt on Infectious Disease in 2030
+19m girlscientist: Can tweet that Flo Pauli of @hudsonalpha was one of the six data wizards given a shout out by Ewan for making ENCODE happen. #AGBT
+20m illumina: #AGBT Workshop: Introducing the HiSeq 2500 & Latest MiSeq Improvements -- starts in 10 min, Illumina Lounge (Capri Ballroom 2/3)
+20m gabecasis: Let's tweet about the design of Birney slides. Some look crowded. #AGBT #NoScience #TopSecret
+21m schnablep: #AGBT Speaker has no science spoiler tweet policy. Perhaps spkrs shouldn't present topics @ lg conferences they don't want people 2 discuss?
+21m EpicentreBio: RT @deannachurch: AG: 1000genomes data, can validate 98.5% of SNPs but only 70% of indels. #AGBT
+21m gabecasis: Encode is "bloody"! Details top secret. #AGBT #TopSecret
+23m GenomeBiology: Can't tweet about science of ENCODE. EB: genome is a big place #agbt
+25m malachigriffith: MindMap for: "large scale sequencing in a clinical environment" http://t.co/lJMx2kQ7 #AGBT
+25m girlscientist: Look like broccoli to me. With some dessert. RT @gabecasis: Let's tweet about the design of Birney slides. Some look crowded. #AGBT
+26m ljthomps4214: Ewan Birney says sequencing technology cost to analyze 1% of ENCODE regions in 2007 dropped enough to cover 100% of genome about 4X. #AGBT
+28m malachigriffith: If you don't use MindMaps yet, check out FreeMind. http://t.co/zRxm1Dpq #AGBT
+30m fluidigm: ELIMINATE the need for paired-end read sequencing. Learn more in Suite 285. #AGBT
+32m froggleston: No tweets eh? Well I can confirm for those in the blackout that EBs talk on ENCODE is chock full of stuff about some bits and bobs. #agbt
+33m girlscientist: And now @michaelhoffman getting a shoutout from @ewanbirney! But I can't tell you why. #AGBT
+34m ElementoLab: #AGBT Ewan Birney: scoop: promoters exist and they are important
+35m CrapBio: are we alowed to skypechat about Ewan Birney #agbt ? are we alowed to talk about it in the bar later?
+36m assemblathon: RT @SEQanswers: Wow. Only 2 lanes/FC...and 39h for 2x151 run MT @illumina: Real data from HiSeq 2500. #AGBT http://t.co/nTjv1ADN
+40m girlscientist: If you're interested in #AGBT and not following @CrapBio: do. But I sure wish they hadn't given me visual image of group skinny-dipping.
+43m girlscientist: All you UCSC users of ENCODE data, @ewanbirney encourages you to "fly European" every so often and use Ensembl too! #AGBT
+46m maureen_mack: @medicalcollege team from @Personal_RX_WI hanging with top genomics experts at #agbt
+50m NextBio: At #AGBT? Stop by our poster #370 on identifying potential tumor biomarker in TCGA glioblastoma data!
+59m CRGenomica: @CompleteGenomic: Today at #AGBT we announced our Biological Discovery Software Partners Program . Read more: http://t.co/jiKHkxkN

4 - 5pm EST
+0m EdgeBio: #AGBT Update #1 via @dgaalaas http://t.co/JdhzqtiF
+2m CompleteGenomic: Great interactive presentations today in the #AGBT Complete Suite! http://t.co/KkCD3gs7
+9m deannachurch: Chuck Perou up to discuss gene expression profiling and molecular classification of breast cancer. #AGBT
+12m carolzanholo: @thaynaismael como protesto cansa agbt passa no mc depois pra come um lanchinho eioheioheioheih
+13m ElementoLab: #AGBT Charles Perou: works on breast cancer
+14m ElementoLab: #AGBT Charles Perou: FFPE has short degraded mRNA fragments (<150nt), not compatible with Agilent array
+17m ElementoLab: #AGBT Charles Perou: developed a qPCR assay based on 50 genes to predict breast cancer subtype
+17m illumina: Charles Perou, Univ North Carolina Chapel Hill. Molec classification of breast tumors using gene expression profiling. #AGBT
+19m illumina: Perou: Started with homemade cDNA arrays ~10 y ago to develop prognostic markers for breast ca, moved to Agilent arrays #AGBT
+19m ElementoLab: #AGBT Charles Perou: prognostic tests use both old biomarkers (eg tumor size) and genomic ones (qPCR profile distance)
+21m ElementoLab: #AGBT Charles Perou: low predicted risk patient do not necessarily need chemo
+22m iontorrent: Ion Torrent Sequencing seminar at 5:20, Hilton Grand Ballroom: Jonathan Rothberg, Sean Grimmond, Marilyn Li, Tim Triche, Niall Lennon #agbt
+22m ElementoLab: #AGBT Charles Perou: use the c-index to select models that best predict patient outcome
+23m girlscientist: Chuck Perou says that genomics is adding to ability to predict prognosis in breast cancer, but no surprise: more data = better models. #AGBT
+24m irondiet: OpGen | Whole Genome Chromosome Mapping, AGBT: Gaithersburg, Md.February 14, 2012 OpGen, Inc., a whole-genome ... http://t.co/dfEFXe7W
+24m ElementoLab: #AGBT Charles Perou: FFPE great because do not need to wait for outcome of clinical trial - 10 years follow up for patients with diag FFPE
+25m ElementoLab: #AGBT Charles Perou: found set of patients with extremely good survival when given tamoxifen alone
+26m ElementoLab: #AGBT Charles Perou: qPCR great but laborious
+26m ElementoLab: #AGBT Charles Perou: used Nanostring nCounter
+28m ElementoLab: #AGBT Charles Perou: nCounter counting individual RNA molecules, no ampification, 1 tube hyb, up to 100 genes, 100-200ng total RNA
+29m ElementoLab: #AGBT Charles Perou: used qPCR, Nanostring, microarray on 28 samples; concordant in 24/28 cases
+29m morinryan: Don't forget #AGBT attendees: @apfejes will post your talk summaries on his blog (fejes.ca) if you provide them to him
+30m froggleston: I am both heartened and strangely disappointed that I haven't found the usual conference singleton poster comprising 100% Comic Sans #agbt
+30m ElementoLab: #AGBT Charles Perou: PAM50 panel (50 genes) tested by independent group, worked well
+31m ElementoLab: #AGBT Charles Perou: 850 breast tumors assayed by RNAseq for TCGA
+32m Massgenomics: Chuck Perou: qPCR, of FFPE, Nanostring of FFPE, and Agilent array of fresh frozen all concordant for 50-gene expression profile. #AGBT
+33m ElementoLab: #AGBT Charles Perou: conventional rDNA depletion does not work on FFPE
+34m illumina: Perou: Moved to RNA-Seq on #HiSeq. 850 breast tumors, 2 x 50 bp part of TCGA #AGBT
+34m ElementoLab: #AGBT Charles Perou: DSN normalization depletes highly abundant species, works on 150nt size FFPE RNA
+34m lykkebak: Charles Perou: Molecular classif of breast tumors using gene expression profiling.. into clinical practices #AGBT http://t.co/4T9tAcSi
+35m iontorrent: "Every tumor is an individual" -Chuck Perou's excellent breast cancer gene expression profiling talk #AGBT
+36m ElementoLab: #AGBT Charles Perou: mRNA-seq fresh vs DSN RNA-seq FFPE, r=0.89
+36m genomeresearch: Breast cancer genomics now at #AGBT. For more, see special issue @genomeresearch http://t.co/xLW14lWc
+37m girlscientist: Shameless plug FTW! RT @genomeresearch: Breast cancer genomics now at #AGBT. For more, see special issue http://t.co/VRX3QPn0
+37m ElementoLab: #AGBT Charles Perou: did mRNA-seq on >2000 tumors for TCGA ! not only breast cancer
+39m Massgenomics: Chuck Perou: UNC has RNA-seq data for 2000+ TCGA tumors. Come and get it! #AGBT
+39m iontorrent: Gene expression data together with standard pathology parameters is best. Will need to combine various mol assay types -Chuck Perou #AGBT
+39m girlscientist: Perou: the development of distributed clinical assays requires commitment from researcher and their technology provider. #AGBT
+40m girlscientist: RT @morinryan: Don't forget #AGBT attendees: @apfejes will post your talk summaries on his blog (fejes.ca) if you provide them to him
+40m illumina: Perou, rRNA in FFPE samples degraded so ribo capture may not work- but you do get to skip fragmentation... #AGBT
+42m deannachurch: Don't forget the tweetup tomorrow night in the lobby bar after the last evening session! @girlscientist will be there! and @bffo too! #AGBT
+44m deannachurch: Arend Sidow is up next to talk about breast cancer progression but no tweeting. #AGBT
+44m lykkebak: Arend SIdow: No tweeting... #AGBT
+49m girlscientist: RT @deannachurch: Don't forget the tweetup tomorrow night in the lobby bar after the last evening session! #AGBT
+50m girlscientist: Skipping parties tonight #AGBT to finish my talk. Y'all have fun without me and keep an eye on the crazy journal editors who are here.
+54m nygenome: Want to hear the latest from #nygenome & @Illumina at #AGBT? Join us in Capri Ballroom 2/3 at 5pm! Signature cocktails await! :-)
+56m schip: Given multiple somatic changes in a tumor should be "Every tumor is multiple individuals" @iontorrent: "Every tumor is an individual" #AGBT
+59m omespeak: Ion Torrent or PacBio - which dinner are you attending? (wishing I could do both, but headed for the Ion Proton sighting) #AGBT

5 - 6pm EST
+2m girlscientist: Young scientists at #AGBT: getting to know journal eds is one of the best ways to learn publishing tips. At least seven are here. Say hi!
+8m NBlow: Missing AGBT this year - but wonderful the volume of Tweets coming out of the conference!
+9m CompleteGenomic: Another interesting presentation today in the #AGBT Complete Suite, if you missed out see you on Friday! http://t.co/ORyecHeW
+11m obahcall: @girlscientist young (in any sense) scientists please do say hi :) at #AGBT
+15m malachigriffith: Classification of Breast Tumors Using Gene Expression Profiling And its Translation Into Clinical Practice http://t.co/Eqq1EUIk #AGBT
+23m omespeak: Sighting people with Twitter open on their browsers at the Ion Torrent seminar. #AGBT
+27m agxp: Can @IonTorrent's sequencer win the Archon Genomics X PRIZE presented by Medco #agbt? http://t.co/RWIbpZxD
+28m CompleteGenomic: See our Partners DNAnexus, Golden Helix & Ingenuity perform demos @ #AGBT Complete Suite tonight at happy hour from 5-7 http://t.co/0v0nJXr4
+35m fluidigm: Wine, Cheese & Targeted Resequencing in suite 285 at #AGBT , stop by!
+37m djschlesinger: PacBio just showed us the trailer for the movie Contagion #AGBT - why?
+38m girlscientist: PacBio panel on managing infectious diseases starts with trailer for movie Contagion, while all are eating. #hooboy #AGBT
+45m mike_schatz: Adam Phillippy articulates the need for mobile distributed genome sequencing to monitor and respond to infectious disease outbreaks. #AGBT
+47m omespeak: Breakthrough technology AmpliSeq to be announced at Ion Torrent seminar. Also, they are going into clinical swequencing (big surprise) #AGBT
+48m djschlesinger: How can we predict what will happen in 15-20 years, did we predict today's advances 15-20 years ago? #AGBT
+50m omespeak: With Proton Sequencer you are supposed to get 6 genomes in a week. Maneesh Jain, Ion Torrent. #AGBT
+52m omespeak: HiSeq and SOLiD owners get a $50K discount on the Ion Proton sequencer. #cheeky #AGBT
+52m lauribe: @agxp: Can @IonTorrent's sequencer win the Archon Genomics X PRIZE presented by Medco #agbt? http://t.co/3Per98mY/ sounds like THE winner
+54m omespeak: Maneesh Jain: 'two-decades leap frogging of Moore's Law' with Ion Proton. #AGBT
+56m djschlesinger: PacBio discussing real time surveillance sequencing networks for infectious disease epidemiology. #AGBT - Practical discussion?

6 - 7pm EST
+0m EdgeBio: We have 2 more winners for our scratch off cards! Congrats to James Schiemer and Petri Auvinen for winning Gift Cards! #WhereisAB #AGBT
+4m djschlesinger: Is PacBio's vision of a "disease weather map" feasible? attainable? practical? Is that where epidemiology is headed? #AGBT
+7m djschlesinger: Even if the "disease weather map" is attainable, how will governments use this info? Will bureaucracies prohibit such advancements? #AGBT
+8m bgilbertABR: How accurate is ion torrent? Really most used in world? #agbt
+10m EvgenyGlazov: RT @mike_schatz: A Phillippy articulates the need for mobile genome sequencing to monitor & respond to disease outbreaks #AGBT @iontorrent
+11m Gavin_Oliver: Rothberg: More experiments run on Ion than any other platform and Ion also more accurate on homopolymers than 'older tech'. Eh? #AGBT
+13m omespeak: Ion AmpliSeq - '3000 amplicons at a time in single tube' . Better than hybridization....hmm. #AGBT
+20m illumina: Explore real HiSeq 2500 data on BaseSpace - info in our latest #AGBT blog post: http://t.co/icjWUTyd
+23m omespeak: Rothberg takes a dig at a company that is currently trying to take over the company he's mainly trying to compete against. #AGBT
+25m iontorrent: We can sequence in your parking lot. Is your idea good enough for a NY Times piece? Email me! -Jonathan Rothberg #AGBT #ionbus
+25m girlscientist: Good q at PacBio event: who's going to pay for the storage of all of these data we all want to generate? #AGBT
+26m Copenhagenomics: J. Rothberg @ ion torrent workshop: The Proton offers the most gigabases per day at lowest cost #claim #AGBT
+33m omespeak: Australian IRB insists that if any useful comes from cancer genome studies, data has to be sent back to clinic. #AGBT
+35m djschlesinger: Extrapolating from PacBio discussion: we'll have sequenced every single DNA strand on the planet within the next 20 years. #AGBT
+37m fluidigm: Suite 285 is THE place to be! Wine & cheese mixer at #AGBT. Stop by for a drink & chance to win $100 Amazon gift card
+40m girlscientist: Marc Allard asks you to please wash your hands after visiting beach bc flocks of birds are out there and "birds are out to get us." #AGBT
+44m djschlesinger: PacBio?? No cool swag after the round table discussion?? #AGBT
+48m djschlesinger: @PacBio, what?? No cool swag after the roundtable discussion?? I'm totally going to buy an Ion Proton instead #AGBT - lol :p
+51m likesky3: Good but HOW? RT @genomeresearch: H Rehm: integrate vast amt of genetic info into patient care by storing millions of variants in EHR #AGBT

7 - 8pm EST
+4m iontorrent: If you really want to study cancer you have to look at functionality, and looking at RNA is a great start. -Tim Triche #AGBT
+15m iontorrent: Looking at transcriptional complexity provides challenges to most sequence alignment software -Tim Triche #AGBT
+19m djschlesinger: Heading to "Genome Technology" concurrent session. Michael Ross from Broad will tell us about sequence bias across platforms #AGBT
+19m BiotechMarketer: @Copenhagenomics Really?! HiSeq produces 55Gb/day today (unattended). What exactly did Rothberg promise the Proton could do? #AGBT
+19m iontorrent: Saw chimeric long range RNA splicing covering >1 Mb of genome. Simple view of nice protein-coding gene is out the window -Tim Triche #AGBT
+22m RongChenBioinfo: Thank you for all the tweets on my talk at @agbt. I am eager to hear talks in the medical sequencing session organized by Elaine Mardis.
+32m CompleteGenomic: We had a great time tonight with our partners and customers at the #AGBT Complete Suite, see you tomorrow! http://t.co/0JYukNxx
+32m deannachurch: In the medical sequencing and variation session- starting with Scott Devine talking about longevity. #AGBT
+33m ElementoLab: #AGBT Scott Devine: identify genetic variants associated with longevity and good health
+34m iontorrent: More than 1200 PGM runs so far at Broad! Niall Lennon #AGBT
+34m ElementoLab: #AGBT Scott Devine: seq 10 full centenarian genomes 30-50X cov and 50 low pass centenarian genomes 4X
+36m deannachurch: SD: Sequencing 10 full (30-50X) and 50 low coveraage (4x) centarians. More females than males b/c those are the samples they have. #AGBT
+36m Massgenomics: Caliper/PerkinElmer dinner, sunset terrace of pres. suite. They just acquired Geospiza and want to help with "reporting to doctors." #AGBT
+36m salisburymw: Yay! Time for the cool tech session at #agbt. Lots of great talks coming our way.
+36m djschlesinger: Ross: bias has always existed, hides biologically important regions, breaks assemblies and increases costs #AGBT
+37m bioinfosm: #agbt It is not too many drinks, but the projector screens are vibrating slightly :P
+38m ElementoLab: #AGBT Scott Devine: looked at DNA repair genes, no clear differences overall with 1000 genomes
+39m deannachurch: SD: Looking at DNA repair genes-variant profile is not significantly different. #AGBT
+39m djschlesinger: Ross: GC content is a good indicator of bias. #AGBT
+40m deannachurch: SD: 279 rare SNPs shared by 8/8 centarians- not seen in dbSNP or phase 1 1000G. #AGBT
+40m djschlesinger: Ross: compared MiSeq, Ion, and PacBio using E. coli, all performed very well #AGBT
+40m ElementoLab: #AGBT Scott Devine: looked for rare variants in centenarians, found 279 rare SNPs shared by 8/8 high cov centenarians, not seen in 1KG/dbSNP
+41m djschlesinger: Ross: comparing a more extreme genome (P. falciparum 19% GC), PacBio provided better coverage below 20% GC #AGBT
+41m ElementoLab: #AGBT Scott Devine: 279 SNPs -> 69 genes, enriched for cell proliferation genes, hematopoiesis, T cell receptors
+41m deannachurch: SD: Using Ingenuity to analyze the 69 genes tagged by the SNPs- top category: Cell growth and proliferation and hematological genes. #AGBT
+42m djschlesinger: Ross: opposite end (R. sphaeroides 69% GC), PacBio coverage was clearly better #AGBT
+43m deannachurch: SD: Testing the idea that centenarians have a better genome to start out with- and also starting to look at Structural Variation. #AGBT
+43m djschlesinger: Ross: now looking at error bias at high GC, where PacBio's quality begins to slip. 10% I sections at higher GC #AGBT
+44m schnablep: #AGBT Scott Devine: "Natural Genetic Variation for Human Longevity" IDed rare SNPs found only in 1/10,000 who make it to >=100.
+44m djschlesinger: Ross: homopolymer bias, MiSeq and Ion show increased error rates with longer homopolymer, however the increase is relative #AGBT
+46m djschlesinger: Ross: coverage bias, HiSeq performs better at high GC ranges, but Complete Genomics does better with homopolymer regions #AGBT
+47m djschlesinger: Ross: Bias changes with changes to library prep #AGBT
+48m djschlesinger: Ross asks how much uncategorized extreme bias remains? #AGBT
+49m agbt: Abstracts are available online for registered attendees. Log in to post a comment or question for presenters. http://t.co/KPEvElhM #AGBT
+50m deannachurch: Anthony Griswold talking about sequencing variants in an autism case/control study. #AGBT
+50m ElementoLab: #AGBT Anthony Griswold: targeting next gen seq in autism cohort of 1K cases and 1K controls
+51m notSoJunkDNA: What??? @iontorrent: More than 1200 PGM runs so far at Broad! Niall Lennon #AGBT
+51m ElementoLab: #AGBT Anthony Griswold: heritability of autism is up to 90%
+52m djschlesinger: Jerod Schwartz, Univ. of Washington talking about optical sequencing #AGBT
+53m obahcall: Anthony Griswold: Targeted sequencing in autism cohort of 1k cases, 1k controls #AGBT
+53m ElementoLab: #AGBT Anthony Griswold: did GWAS, found many weak associations
+54m djschlesinger: Schwartz: De novo assembly capabilities has not kept pace with increasing volumes of sequencing data #AGBT
+55m ElementoLab: #AGBT Anthony Griswold: used Agilent SureSelect to capture exons of 689 genes nominated by GWAS + conserved regions in these genes
+55m illumina: Jerrod Schwartz, Univ Washington. Capturing natively long DNA directly in Illumina flow cells #AGBT
+56m iontorrent: Greg Buck, VCU indicated they are able to get to species level by sequencing V1-V3 of vaginal samples #AGBT
+56m ElementoLab: #AGBT Anthony Griswold: so far seq-ed 806 cases and 745 controls
+57m BiotechMarketer: @Copenhagenomics Yeah, I forget they're promising two generations out. Proton 2 might hit 200Gb/day (2 runs) #AGBT
+57m ElementoLab: #AGBT Anthony Griswold: many self-reported controls were incorrect about ethnicity
+57m Copenhagenomics: If you didn't get tix for #AGBT consider beautiful Copenhagen, June 14-15, for #CPHx 2012 instead. Exciting sessions and great speakers :)
+58m djschlesinger: Schwartz: there's a need to capture sequence and contiguity. Their solution is Infinipair #AGBT
+58m Massgenomics: Griswold on Autism: a lot of self-reported ethnicities were wrong and confounded the initial analysis. #AGBT

8 - 9pm EST
+0m djschlesinger: Schwartz: method starts with long molecular bridge (like bridge PCR) on Illumina flowcell and cleaving the molecule with tranposase #AGBT
+1m djschlesinger: Schwartz: this creates two clusters close to each other, distance related to original insert size #AGBT
+1m ElementoLab: #AGBT Anthony Griswold: single variant association yielded a few hits, but do not pass cutoff after multiple hypothesis testing
+2m schnablep: #AGBT Griswold. Autism affects 1/110; >100 genes implicated, none explains >2% of cases; seeking rare variants. Targeted sequencing 1k cases
+2m ElementoLab: #AGBT Anthony Griswold: same story for genes and damaging variants
+2m djschlesinger: Schwartz: this allows you to map adjacent clusters. Essentially like a mate pair. #AGBT
+2m fluidigm: Thirsty? Stop by Suite 285 at #AGBT and we will help you quench your thirst.. we are waiting!>o
+3m djschlesinger: Schwartz's method is pretty cool, but difficult to describe 144 characters at a time #AGBT
+4m Massgenomics: Griswold targeted sequencing in Autism: 689 gene regions on a 17 Mbp Agilent array. Caliper automation, 11 samples per HiSeq lane. #AGBT.
+5m illumina: Infinipair details MT @djschlesinger Schwartz: long molecular bridge (like bridge PCR) on flowcell & cleaving molecule with tranposase #AGBT
+6m ElementoLab: #AGBT Anthony Griswold: overall no clear association unfortunately
+7m assemblathon: RT @girlscientist: Good q at PacBio event: who's going to pay for the storage of all of these data we all want to generate? #AGBT
+8m illumina: Schwartz: Electrophoretic stretching enables 5-8 kb libraries binding directly to flow cell! #AGBT
+9m djschlesinger: Schwartz showed cool pick of clusters on a flow cell. Adjacent linear clusters (4-6) generated from same molecule. Very neat! #AGBT
+10m illumina: Schwartz: image of lambda DNA stretched on flow cell, followed by in situ transposition. Impressive! #AGBT
+10m chloe46037: Greg Buck talked on the vaginal microbiome but no right to twit. Very nice update on the vaginal microbiome #AGBT .
+11m djschlesinger: John Healy from GnuBio up next #AGBT - will talk live up to hype?
+11m beckforde9: AGBT
+12m deannachurch: Mait Metspalu on human and population structure and genome-wide signals of positive selection in South Asia. #AGBT
+12m djschlesinger: Healy: shows a picture of GnuBio instrument with beta release mid-2012 and full commercial release at end of year #AGBT
+12m djschlesinger: Healy: system has very small profile, weighs ~30 lbs #AGBT
+13m obahcall: Mait Metspalu on population structure and selection signals in South Asia #AGBT
+13m bffo: Note 2 all authors: Long titles 4 papers and 4 talks are hard/impossible to tweet! Think <140 characters when thinking of a title #agbt
+13m chloe46037: Rob edwards did not make it to agbt, but Bas Dunthil will give the talk on identification of gene repertoires #AGBT
+14m djschlesinger: Healy: machines can be stacked in a rack. Instrument itself is a dry machine, cartridge contains fluidics. #AGBT
+14m GoyaRodrigo: GnuBio... Gnu's not Unix Bio? #agbt
+15m Symbionticism: Bas Dutilh from Rob Edwards lab (SDSU) sais Vibrio cholerae has caused seven pandemics in human history. Using genomes to study evol. #AGBT
+15m djschlesinger: Healy: two libraries (PCR primer and sequencing probe) come preloaded on cartridge #AGBT
+16m Gavin_Oliver: GnuBio to release cartridge based desktop sequencer in 2012. Read length up to 1000bp. Real time variant calling. #AGBT
+17m robincoope: For reference a human hair is about 100 microns so call the gnubio channel 25. #agbt
+17m Symbionticism: Dutilh showes that new Ion Torrest chemistry is outstanding. Big improvement. High quality all the way through the 100bp reads. #AGBT
+19m froggleston: Gnubio clinical sequencer. Interesting tech. Looks like a SNES. Cartridges! Playing Duck Hunt in downtime is a great selling point #agbt
+20m illumina: Illumina Talk: WG Analysis of Monozygotic Twins & Their Parents: Accurate Detection of Variants - starts in 10 min, Island Ballroom #AGBT
+20m djschlesinger: Healy talking too fast, having trouble following #AGBT
+21m Massgenomics: Edwards: Sequenced 210 cholera isolates collected since 1910 on IonTorrent system. 314 chip had big quality dropoff; 318 way better. #AGBT
+22m djschlesinger: Healy: each base is interrogated 6 times #AGBT
+23m illumina: Healy: Confusion over "dry machine" and talk of microfluidic & tiny droplets... #AGBT
+24m Gavin_Oliver: GnuBio all runs to date Q50+ per base #AGBT
+24m djschlesinger: Healy: all runs to date have been Q50+ per base. All targets covered to 10,000 x coverage. #AGBT
+24m djschlesinger: Healy: accuracy Phred 70+, less than 1 minute prep time, cost per sample = $200 #AGBT
+25m Massgenomics: Healy lost me to microbial track w/ "Keep this picture of a car in your mind as I talk" Cholera kills 80% of Oregon Trail players. #AGBT.
+26m Gavin_Oliver: GnuBio <1 minute sample prep time and 3.5 hr run time #AGBT
+26m lykkebak: Healy: comparison vs leading desktop platform #AGBT http://t.co/JPKbR7L2
+26m NJL_Broad: If that's clear? ....... um. #AGBT
+27m Symbionticism: Dutilh: once again phages responsible for global variation in bacteria, in this case in V. cholerae genomes across time and geography. #AGBT
+27m djschlesinger: Healy: talking over my head, but the jist is that the system, as is, has tremendous room for growth in read length and data output #AGBT
+27m lykkebak: Healy #gnubio on the future #AGBT http://t.co/5KSzCcVS
+28m deannachurch: Remember- photos are prohibited without the express consent of the presenter. True for talks and posters. #AGBT
+29m djschlesinger: Healy: GnuBio interface: log into system, identify targets, oligos produced by 3rd party, validation at GnuBio, ships to customer #AGBT
+30m djschlesinger: Healy: 20ng starting input, no shearing of DNA required #AGBT - amazing!
+30m froggleston: Did I miss the car analogy? I feel like I've just been in a car accident if that helps. #agbt
+32m omespeak: So I missed first part of the talk, but is the GnuBio technology for whole genome sequencing or just certain loci? #AGBT
+33m deannachurch: Elliott Margulies: WGA of monozygotic twins and their parents for accurate detection of rare disease causing variants. #AGBT
+33m ElementoLab: #AGBT Elliott Margulies: studied family of 4, 2 parents and 2 twins concordant for a neurological disease
+34m Personal_RX_WI: Fascinating technology jump by @gnubio at #AGBT. Possibility of 64kb read length and whole genome per couple hour run. Quite simple tech too
+34m ElementoLab: #AGBT Elliott Margulies: also wanted to assess germline mutation rate, genetic differences between identical twins
+34m djschlesinger: LaserGen, Inc up next #AGBT
+35m Massgenomics: Margulies: WGS of a family quartet: monozygotic twins with an undiagnosed neurological phenotype. Illumina v3 chemistry HISeq #AGBT.
+35m ElementoLab: #AGBT Elliott Margulies: all 4 family members seq-ed at cov >35X
+37m girlscientist: Elliott Margulies of Illumina now, but talking about work from his lab at NIH. Sequencing quartet of parents and identical twins. #AGBT
+37m ElementoLab: #AGBT Elliott Margulies: medium size indels sre hard to call
+38m omespeak: Wrt to GnuBio...#agbt RT @djschlesinger @omespeak resequencing to start, but has a lot of room for growth to whole genome
+39m ElementoLab: #AGBT Elliott Margulies: used pindel to realign reads .. picked up things like 500b deletions
+40m djschlesinger: LaserGen's lightening terminators incorporate extremely fast and bind tighter than natural nucleotide #AGBT
+42m Massgenomics: Margulies' filters: 93% of genome callable in family quartet, 1025 candidate de novo mutations; 58 with NO Q>20 reads in parents. #AGBT.
+43m djschlesinger: LaserGen seems to have done a lot of engineering to these terminators, why not just sell them to Illumina?? #AGBT
+44m ElementoLab: #AGBT Elliott Margulies: several de novo mutations but no clear difference between twins
+45m deannachurch: EM: false negative calls a bigger problem in their process than false positives. #AGBT
+46m djschlesinger: LaserGen's tech is cool, but will they be able to develop a physical machine that can compete with Illumina? #AGBT
+46m ElementoLab: #AGBT Elliott Margulies: de novo indels and CNVs can be picked up manually
+47m Massgenomics: Margulies: Important to filter your data, and small-indel calling still very difficult to do with accuracy. #AGBT.
+47m deannachurch: EM: Important to know the proportion of the reference genome that you can call- this # as important as FP/FN rates. #AGBT
+47m ElementoLab: #AGBT Elliott Margulies: disease causing mutation not found
+48m djschlesinger: LaserGen, raw base call accuracy is 99.8% #AGBT
+50m deannachurch: Wigaard Kloosterman: Mate-pair sequencing to look at mechanisms driving complex genomic rearrangements. #AGBT
+51m djschlesinger: Andre Marziali from Boreal Genomics up next to discuss Multiplexed Enrichment of Rare Alleles #AGBT
+51m ElementoLab: #AGBT Elliott Margulies: Mardis believes that BreakDancer can find these medium size indels
+54m bgilbertABR: Lasergen and gnubio launch by end 2012, thoughts? # agbt
+55m omespeak: So LaserGen wants to target 100bp reads with their higher accuracy 99.8%! Cost ~$99K for instrument & $1K per run. #AGBT
+55m ElementoLab: #AGBT Wigard Kloosterman: sequencing a patient with very complex rearrangements, with parents as control
+58m djschlesinger: Andre Marziali, Boreal Genomics discussing enrichment of rare alleles #AGBT
+58m ElementoLab: #AGBT Wigard Kloosterman: found 12 de novo breakpoints
+58m ElementoLab: #AGBT Wigard Kloosterman: very complex rearrangement indeed

9 - 10pm EST
+0m ElementoLab: #AGBT Wigard Kloosterman: could be explained by chromothripsis as in Stephens et al, Cell, 2011
+1m bkmacy: RT @djschlesinger: Schwartz: De novo assembly capabilities has not kept pace with increasing volumes of sequencing data #AGBT
+2m bkmacy: RT @illumina: Geoff Smith, Illumina UK: Longest perfect overlapping read so far on #MiSeq 678 bp! #AGBT
+3m ElementoLab: #AGBT Wigard Kloosterman: larger cohorts of patients with complex rearrangements, found 130 breakpoints
+4m ElementoLab: #AGBT Wigard Kloosterman: found patterns of microhomology at breakpoints
+5m ElementoLab: #AGBT Wigard Kloosterman: what triggers chrom shattering ?
+6m djschlesinger: Marziali showing some wild videos of fluorescently labeled alleles being separated w/ microfluidics, you can see the strands separate #AGBT
+6m ElementoLab: #AGBT Wigard Kloosterman: patternal chromosome more frequently involved
+6m illumina: Andre Marziali: Enrichment of low conc of specific seq by capture onto oligos attached to electro gel & a circular electrical field #AGBT
+8m chloe46037: Come an celebrate AGBT with Roche at lanai #290. #AGBT
+8m ElementoLab: #AGBT Wigard Kloosterman: some of the rearrangements create fusion genes, eg DPYD-ETV1
+11m deannachurch: Shane McCarthy last speaker of the session- Family based WGS of schizophrenia. #AGBT
+13m ElementoLab: #AGBT: Shane McCarthy: family based WGS of schizophrenia
+15m omespeak: Technical problems galore at the Genomics Technology session. #AGBT
+17m ElementoLab: #AGBT Shane McCarthy: increased rate of de novo CNVs in schizophrenia
+18m swarmIQ: Celebrate HaloPlex tonight at a Swedish themed party. Come by the Caxambas Suite & learn about the tech. #AGBT #Agilent http://t.co/h6nD4nft
+19m deannachurch: SM: Many of the CNVs associated with schizophrenia are also associated with Dev. Delay, ASD and other neurocognitive defects. #AGBT
+19m juselenas2: gente eu fui no testaurante q almocei com a @Catch_Selena ai eu fui na mesa q agbt tinha ficado e abracei a cadera q ela sentou anw!
+19m bkmacy: New tech does take time RT @omespeak: Technical problems galore at the Genomics Technology session #AGBT
+21m iBAST: RT @bkmacy New tech does take time RT @omespeak: Technical problems galore at the Genomics Technology session #AGBT http://t.co/SgFgHpCM
+21m omespeak: Final question of the evening at #AGBT: which party?
+22m ElementoLab: #AGBT Shane McCarthy: case control studies might not work if number of causal variants very large, uses pedigrees instead
+22m iBAST: RT @bkmacy New tech does take time RT @omespeak: Technical problems galore at the Genomics Technology session #AGBT http://t.co/xVLETLEu
+23m girlscientist: After extensive technical delays, Sunney Xie presenting, with dramatic pauses, what he says is true single molecule sequencing. #AGBT
+25m ElementoLab: #AGBT Shane McCarthy: seq-ed 2 pedigrees
+26m ElementoLab: #AGBT Shane McCarthy: Looked for variants in linked regions
+30m ElementoLab: #AGBT Shane McCarthy: 3 missense variants in linked region in 1 pedigree, gene function not clear
+30m dwmohr: Good scotch at the Caliper suite, but none for you KNH #not agbt
+33m ElementoLab: #AGBT Shane McCarthy: no clear gene candidate overall
+35m ElementoLab: #AGBT Shane McCarthy: they have a mystery chrom 6 candidate, not in MHC
+36m ElementoLab: #AGBT Shane McCarthy: mystery region on chrom 6 conserved in zebrafish
+45m iontorrent: 300 people at Ion Sequencing Seminar!!! #agbt #ionbus http://t.co/jnGUwpKI
+58m EdgeBio: RT @iontorrent: 300 people at Ion Sequencing Seminar!!! #agbt #ionbus http://t.co/RZFVpNWB

10 - 11pm EST
+5m Massgenomics: Summary of first day at #AGBT: http://t.co/IDALVCxP
+36m DrugsandWhiskey: AGBT = PAUSE
+39m illumina: Missed a session? Abizar Lakdawalla blogging #AGBT. New posts for all Day 2 sessions up soon. http://t.co/isP5PzDn
+53m BlueSEQ: Good summary of #AGBT day 1 from @Massgenomics http://t.co/V4MADtAy
+56m BiotechMarketer: @omespeak What kind of output per run was LaserGen promising? #AGBT
+7m ribozyme: Thanks all for the tweets on #AGBT - it's a for those who couldnt make it this year. Keep them coming!
+10m wjgoode: RT @Massgenomics: Summary of first day at #AGBT: http://t.co/RH5kVAXo #genomics
+11m ribozyme: Thanks all for the tweets on #AGBT - its at least some solace for those who couldn't be there this year - Keep'em coming!
+34m corbishleyz5: AGBT
+53m jenningswv3: AGBT
+55m herrerak4: AGBT
+8m pittmanfh6: AGBT
+56m pathogenomenick: All of the #AGBT day 2 tweets are available at http://t.co/SGK6XrBj
+2m crs4research: Genome Biology and Technology (#AGBT) meeting: from February 15-18, 2012 http://t.co/1QlW9T1c http://t.co/1QlW9T1c