Quinones: Up to this year used Sanger sequencing to detect mutations. About 1 year ago, developed an NGS-based one. #ASHG2013
1:38pm October 24th 2013 via Hootsuite
Up next: Dr. Miguel Quinones-Mateu, Case Western Univ. 'Deepgen HIV' #ASHG2013
1:35pm October 24th 2013 via Hootsuite
Allcock: 50ng vs. 1.5-2ug input for capture. Have sequenced 300 smpls in 6 mo. for neuromuscular disease. #ASHG2013
1:31pm October 24th 2013 via Hootsuite
Allcock: Proton 80M reads, 14GB, 235bp nice inc. in readlength. 95% on target reads. #ASHG2013
1:28pm October 24th 2013 via Hootsuite
Allcock: Orphan cases- 10-15% success rates. Hyb capture has limits, 3d, large input. AmpliSeq: rapid PCR based Exome targeting #ASHG2013
1:26pm October 24th 2013 via Hootsuite
Allcock: Looks at synonymous variants for minicore disease. Found 4bp deletion in Titan gene, very diff. to seq. Last 2bp of exon #ASHG2013
1:24pm October 24th 2013 via Hootsuite
Allcock: 3.2MB target fits 16 smpl/run, much easier to analyze, one failure in 6 mo but still callable data #ASHG2013
1:21pm October 24th 2013 via Hootsuite
Allcock: WES using TargetSeq on Proton fits 2 smpl/run, chose >20x target, only needed 60x coverage /smpl #ASHG2013
1:19pm October 24th 2013 via Hootsuite
Alcock: Neg. clinical results get consented to feed back to the NGS res. lab. WES, 336 gene panel of 3.2MB #ASHG2013
1:17pm October 24th 2013 via Hootsuite
R. Allcock, Univ W Australia, getting 12-14GB per run on Ion Proton, 'very reliable'. Photo: http://t.co/YTjnFc3RSf
1:14pm October 24th 2013 via Hootsuite
Proven by math (!) RT@HarvardBiz Make Better Decisions by Getting Outside Your Social Bubble http://t.co/tpKjzvJyIq
1:10pm October 24th 2013 via Hootsuite
RT @iontorrent: first up - George Watts, U AZ Cancer talking BugSeq! Metagenomic analysis of infections using Ion Torrent PGM #ASHG2013
1:04pm October 24th 2013 via Hootsuite in reply to
Life Technologies' Andy Felton at #ASHG2013 lunchtime @iontorrent workshop. http://t.co/fwNfGySjTz
1:01pm October 24th 2013 via Hootsuite
RT @AppliedBio: Monitoring, analyzing, and exploring @IonTorrent NGS data Torrent Suite Software Poster 1474T Thurs 10/24 11:30a #ASHG2013
12:10pm October 24th 2013 via Hootsuite in reply to
RT @aricochet: Why Can't We All Just Get Along? The Uncertain Biological Basis of Morality | The Atlantic http://t.co/59rm5DlyJC
11:11am October 24th 2013 via Hootsuite in reply to
RT @appliedbio: .@iontorrent lunch seminar Today 12:30 Room 259, Level 2 Exome, Metagenomics, HIV Genotyping #ASHG2013 @LIFECorporation
10:11am October 24th 2013 via Hootsuite
Pearson Q&A: The API is open. 'We're not hoping to make $ from this; goal is to broaden understanding of the platform, including those..
9:35am October 24th 2013 via Hootsuite
Pearson: first project on myopia. Live examination of the projec, invite collaboration #ASHG2013
9:27am October 24th 2013 via Hootsuite
Pearson
9:24am October 24th 2013 via Hootsuite
Was told by a friend at @Ingenuity that @GenomeNathan was the driving force behind the EWG project. Congratulations Nathan! #ASHG2013
9:18am October 24th 2013 via Hootsuite
Pearson: For info about the Empowered Whole Genome cohort, here's a press release via Yahoo Oct 15 http://t.co/5fCozQuHJn #ASHG2013
N. Pearson up next: The Empowered Whole Genome Cohort: Shareable Joint Genome Interpretation for Research and Personal Insight. #ASHG2013
9:17am October 24th 2013 via Hootsuite
Towne: Q&A: 'We do are best not to see (VUS)" #ASHG2013
9:01am October 24th 2013 via Hootsuite
Towne: Concl: "WES is a valuable tool"; "may shorthen time"; "clinician involvement... is crucial" #ASHG2013
8:59am October 24th 2013 via Hootsuite
Towne: Research group did show reduced cost and time. Ave cost for WES was $4.5K/family. Over 15mo cost (to Dec 2012) ~$2K to ~$1K #ASHG2013
8:58am October 24th 2013 via Hootsuite
Towne: Pipelines include Codified genomics, Xbrowse. Data from 79 families: 26 in analysis; 22 found known muts; 17 w/novel genes #ASHG2013
8:52am October 24th 2013 via Hootsuite
Towne:48% unk. Dx; 45% unk. molecular cause (e.g. mt disease); 5% primary etiology known #ASHG2013
8:49am October 24th 2013 via Hootsuite
Towne: 17 with extended families due to consanguinity or other factors. #ASHG2013
Towne: Majority is WES, reporting primary findings back, 1408 pts from 427 families; 375 samples as trios (82), 45 probands only #ASHG2013
8:48am October 24th 2013 via Hootsuite
Up next: M. Towne, BCH: Efficiency of whole exome/genome sequencing for achieving a diagnosis in rare presentations. #ASHG2013
8:47am October 24th 2013 via Hootsuite
Khurana: Gerstein lab developed a tool called FunSeq. #ASHG2013 Gerstein lab FunSeq link http://t.co/U6NqMesEbt
8:46am October 24th 2013 via Hootsuite
Khurana: Found 1 variant in WDR74 gene promoter after multi-step filtering, shows diff. exp in tumor samples. #ASHG2013
8:45am October 24th 2013 via Hootsuite
Khurana: Germline vs. somatic variants from existing cancer datasets, fig. Khurana Science 2013 #ASHG2013 PubMed: http://t.co/dGgTDZ0pSJ
8:44am October 24th 2013 via Hootsuite
Khurana:SNPs which break TF binding motifs under stronger selection #ASHG2013
8:43am October 24th 2013 via Hootsuite
Khurana: Identify the nc elements that are under 'coding-like' selection, then look at HGMD for functional significance. #ASHG2013
8:38am October 24th 2013 via Hootsuite
E. Khurana: Looked at evol. conservation of rare SNPs 'as a metric for neg selection' Essential and Cancer genes most conserv'd. #ASHG2013
8:35am October 24th 2013 via Hootsuite
Khurana: Goad is to ID deleterious non-coding mutations: 'No standard approaches exist'. Using TGP and ENCODE data for cancer #ASHG2013
8:33am October 24th 2013 via Hootsuite
Up next: E. Khurana: Integrative annotation from 1092 humans for cancer. #ASHG2013
8:32am October 24th 2013 via Hootsuite
Kobolt: MendelScan: Java package that uses variants, pedigree, var. annotation and exp data for the score #ASHG2013 http://t.co/xW2rGkxcRW
8:30am October 24th 2013 via Hootsuite
@girlscientist Oops, didn't realize it - sorry!
8:25am October 24th 2013 via Hootsuite in reply to
RT @stephaniehicks: A. Alexander: Gene-Frequency Score (random forest classifier) trained on uniprot data (11.5K genes, 2100 muts) #ASHG2013
8:14am October 24th 2013 via Hootsuite
RT @KurzweilAINews: A billion-year storage medium that could outlive the human race http://t.co/q03W948mvG
7:11am October 24th 2013 via Hootsuite in reply to
RT @WIRED: Don't overthink it. Just buy this iPad: http://t.co/h8qWsjyrR0
6:11am October 24th 2013 via Hootsuite in reply to
RT @drbachinsky: PacBio Achieves 500Mb/SMRT Cell Throughput in Newly Released Human Data http://t.co/I6jIwOO73o
12:41pm October 23rd 2013 via Hootsuite
RT @RWW: Apple announced that OS X Mavericks is launching today, for free. http://t.co/4rRUYE3nE4
11:41am October 23rd 2013 via Hootsuite
RT @SeqAnalysis: X Prize Foundation to Add 3 New Ocean Competitions http://t.co/H6qOiJMwkV
10:40am October 23rd 2013 via Hootsuite
#ASHG2013 attendees come by the @lifetechcorp booth for a cool gift and the latest about @iontorrent and digital PCR http://t.co/5oSQBzwySU
10:07am October 23rd 2013 via Hootsuite
RT @USNewsEducation: A "mini MBA" program can provide lessons in marketing and entrepreneurship. http://t.co/9c68fCl95K
9:41am October 23rd 2013 via Hootsuite
RT @evgenyglazov: @iontorrent Announcement of Hi-Q chemistry http://t.co/zig7Guy0nf & Hi-Q data on the Ion Community http://t.co/zIK0ipb
8:40am October 23rd 2013 via Hootsuite
Indel error reduced 90% RT @lifecorporation: "This is clearly a major advancement" http://t.co/NGtne8atVb #sequencing
7:40am October 23rd 2013 via Hootsuite
