MT @drbachinsky: The Website Keeping Consumer Genetics Alive http://t.co/xJEkvZCySs @techreview
6:56am October 19th 2014 via Hootsuite
Two new friends at the #ashg14 tweetup. Great time! http://t.co/zGWLX6FFMX
12:29am October 19th 2014 via Hootsuite
CB: Showed stacked bar chart of classification by relevance: known, COSMIC, and known kinase. 14% of TCGA have at least 1 fusion #ASHG14
9:33pm October 18th 2014 via Hootsuite
CB: Vast majority of fusions <1MB. 1578 recurrent fusions are in TCGA; 58 fusions are >10 times. Finding highly recurrent ones #ASHG14
9:30pm October 18th 2014 via Hootsuite
CB: 96% of ovarian ca has at least one fusion; 45% of TCGA samples have none; some w/ as many as 60 fusions #ASHG14
9:28pm October 18th 2014 via Hootsuite
CB: Lays out analysis pipeline using tool on Github called Mojo; high false-positives common for fusion detection from NGS data #ASHG14
9:26pm October 18th 2014 via Hootsuite
CB: With TCGA data, look across 7,831 tumor transcriptomes; median is 250 per cancer type (28 types) #ASHG14
9:23pm October 18th 2014 via Hootsuite
CB: COSMIC, 40.9K, Mittelman 64.6K, have 212 recurrent fusion genes (>3 samples). Enriched for blood, sarcomas #ASHG14
9:22pm October 18th 2014 via Hootsuite
CB: Characterization of fusion - an oligo-dimerization and a kinase domain. Many examples eg BCR-ABL #ASHG14
9:21pm October 18th 2014 via Hootsuite
C. Bandlamudi (U Chicago): Disc. and fn char. of recurrent gene fusions from 7K primary tumor transcriptomes across 28 hum cancers #ASHG14
9:20pm October 18th 2014 via Hootsuite
XN: Fn of BOLA2 - cell proliferation or cell cycle regulation. Expressed ubiquitously. In iPS: most DEG bet human and primate #ASHG14
9:12pm October 18th 2014 via Hootsuite
XN: Cp to Neanderthal and Denisovan - not there either. 98% of humans have 2 or more dupl copies. #ASHG14
9:11pm October 18th 2014 via Hootsuite
XN: Data suggests 102kbp copy number variation. Est 128k years ago BOLA2 duplicated. Found 'youngest human-spec dupl gene' #ASHG14
9:10pm October 18th 2014 via Hootsuite
XN: Shows extensive dupl and rearr. over 12-14MY of evolution. 3 inversions between humans and orangutan, >950kb duplicated #ASHG14
9:07pm October 18th 2014 via Hootsuite
XN: Needed PacBio reads of long-insert BAC clones. 6 alternate haplotypes, 99 clones, >11MB of contiguous reference sequence #ASHG14
9:06pm October 18th 2014 via Hootsuite
XN: WGS from >2500 indiv, 86 non-human primates: showing data from duplicated BOLA2 gene, extensive CNV, human-specific #ASHG14
9:05pm October 18th 2014 via Hootsuite
XN: Perhaps: "not all deletions are created equal". 600kb 'critical region', flanked by 150kb duplications. 4 genes in dupl. region #ASHG14
9:03pm October 18th 2014 via Hootsuite
XN: 16p11.2 w/del's and dup's - wide hetergeneity. From 130 - histogram shows wide range of phenotypes, incl. no symptoms, IQ118 #ASHG14
9:02pm October 18th 2014 via Hootsuite
Xander Nuttle (Univ WA): Human-specific gene evolution and structural diversity of the chromosome 16p11.2 autism CNV #ASHG14
9:00pm October 18th 2014 via Hootsuite
RT @meiotic_Drive: UK10K - low coverage sequencing - 7x on 3781 samples #ASHG14
8:47pm October 18th 2014 via Hootsuite
NS: Graph of UK10K haplotype ref panel increases imputation accuracy of low freq and rare variants #ASHG14
8:46pm October 18th 2014 via Hootsuite
NS: Points out the Manolio et al figure of common and rare variation, and the need to look at common disease cohorts #ASHG14
8:41pm October 18th 2014 via Hootsuite
Next: Nicole Soranzo (Wellcome Trust) The UK10K project: rare variants in health and disease. #ASHG14
8:40pm October 18th 2014 via Hootsuite
CM: Concl. (1 of 4): 'An unprecedented opportunity is upon us to improve medical treatments through precision medicine' #ASHG14
8:35pm October 18th 2014 via Hootsuite
CM: Presents the goals of the Global Alliance for Genomics and Health http://t.co/10OOU2x4f0 #ASHG14
8:32pm October 18th 2014 via Hootsuite
CM: Points to the summer's New Yorker piece, and social media's involvement http://t.co/pFY9laOdtO #ASHG14
8:30pm October 18th 2014 via Hootsuite
CM: "Never underestimate the power of a diagnosis, even when nothing can be done." #ASHG14
8:28pm October 18th 2014 via Hootsuite
#ASHGCaption "I think Mom and I have been translocated" #ASHG14
8:25pm October 18th 2014 via Hootsuite
Pres. Address Cynthia Morton (B&W Hosp): Makes case for thoughtful return of genetic results. Pulls up GDS http://t.co/jK6fAZWSVD #ASHG1
8:22pm October 18th 2014 via Hootsuite
RT @MHendr1cks: How to Stop Winning Nobel Prizes in Science http://t.co/nVTCBpqWZ9 via @WSJ
3:54pm October 18th 2014 via Hootsuite
TIL that a person can make a living making presentations about ‘data-assisted living’ | BW http://t.co/tVGADtZaS8
12:30pm October 18th 2014 via Hootsuite
Mobile payment in Africa: ‘I feel like a caveman who’s just been handed a BIC lighter’ | BW http://t.co/724r4YBFNd
11:24am October 18th 2014 via Hootsuite
For twitter folks at #ASHG14: Improve your conference experience with Twitter | Behind the Bench http://t.co/zFoKiCpaBv #ASHG2014
10:09am October 18th 2014 via Hootsuite
New post: Genetic pathway fingerprinting using AmpliSeq RNA, Ion World Berlin | Behind the Bench http://t.co/h30l65m7mL
7:17am October 18th 2014 via Hootsuite
Working hours: Get a life—or get fat | The Economist http://t.co/sPorBi2ILt
5:05am October 18th 2014 via Hootsuite
.@HolliHDilks Hi Holli - will be keeping an audience like you in mind at #ashg14 - perhaps see you #AGBT15!
11:40am October 17th 2014 via Hootsuite in reply to
RT @harvardmed: Innovative system successfully reproduces full course of events in development of Alzheimer's disease http://t.co/8wsTM7VEBE
10:25am October 17th 2014 via Hootsuite
RT @Rndubois: Gut Microbes Tied to Jet Lag, Shift-Work Weight Gain: http://t.co/uew9xRc9cQ
9:30am October 17th 2014 via Hootsuite
How Text Messages Change from Dating to Marriage | A Dash of Data http://t.co/7BhmjG521S
8:50am October 17th 2014 via Hootsuite
RT @iontorrent: How do you check for quality on a NGS Cancer Research Panel? Acrometrix Oncology Research Control http://t.co/GrGhVwPP9X
7:05am October 17th 2014 via Hootsuite
RT @DrKhouryCDC: Canada & the battle against #DTC personal genetic tests http://t.co/9D8ivctPag
6:05am October 17th 2014 via Hootsuite
RT @Genomicswatch: NIH programs explore genomics application in 'real world' setting - Healio http://t.co/uzoorscvNq
5:01am October 17th 2014 via Hootsuite
RT @npgnews: Attending #ASHG2014? Get your picture taken at @LifeTech's photo booth at STAND 513 to be featured on a Nature journal cover!
4:05am October 17th 2014 via Hootsuite
RT @scilogscom: I'm not procrastinating, I'm just tweeting... The Psychology of Procrastination http://t.co/3yfqfc1GqG by @jalees_rehman
9:05pm October 16th 2014 via Hootsuite
Love in the Time of Ebola: Single Male Seeks ‘Fertile’ Apocalypse Companion - http://t.co/gBiBVqDEg3 http://t.co/JMQnAe2kip
8:05pm October 16th 2014 via Hootsuite
RT @pickover: Imagine the joy of arranging bananas to cast a shadow of a monkey. Source: http://t.co/nERidU5aZl http://t.co/lSebLYpObI
7:05pm October 16th 2014 via Hootsuite
The Ion PGM Dx system receives CE-IVD mark for Europe | GenomeWeb http://t.co/OM4xp9Dl1X
6:05pm October 16th 2014 via Hootsuite
RT @planetmoney: The Most Popular Jobs For The Rich, Middle Class And Poor: http://t.co/vaq8sA3jYI http://t.co/x0fBJHndhX
5:05pm October 16th 2014 via Hootsuite
Ebola by the numbers: The size, spread and cost of an outbreak : Nature News http://t.co/4WE8T7czpO
4:03pm October 16th 2014 via Hootsuite
RT @LouWoodley: "The (welcome) rise of the science blogger has fuelled this navel-gazing" [about science journalism] http://t.co/wgAEAyDCyX
3:05pm October 16th 2014 via Hootsuite
