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
New post: Ion Chef, PII Chip, Isothermal Template Prep and a new Hi-Q Enzyme at Ion World 2013 http://t.co/Y9b5KHeJQG
7:48am October 23rd 2013 via Wordpress Yuzuki Tweet posts
Indel error reduced 90% RT @lifecorporation: "This is clearly a major advancement" http://t.co/NGtne8atVb #sequencing
7:40am October 23rd 2013 via Hootsuite
RT @AppliedBio: Good Morning Boston and #ASHG2013 Let’s do lunch today: Room 259AB Level 2 We’ll talk qPCR & Digital PCR
6:38am October 23rd 2013 via Hootsuite
RT @iontorrent: Mark your #ASHG2013 maps, @LIFECorporation at booth #401 this year, @iontorrent bus at booth #100 http://t.co/x64qnl5rha
5:40am October 23rd 2013 via Hootsuite
RT @RayBiotech: More evidence that coffee is a 'wonder drug': Drinking Coffee Cuts Liver Cancer Risk by 40%: http://t.co/tkHM0nFcQH
4:41am October 23rd 2013 via Hootsuite
RT @novogenmexico: We congratulate everyone at #IonWorld2013 #Boston for organizing a great event! See you next year! @iontorrent
9:40pm October 22nd 2013 via Hootsuite
@AllSeq Is it good enough to say 'stay tuned for my blog post'? :o) Will try to work on it tonight... J/K - EA Mar 2014; planned May '14.
9:04pm October 22nd 2013 via Hootsuite in reply to
Oxford Nanopore's booth at the #ASHG2013 meeting in Boston. http://t.co/UpHdvXsOzN
8:25pm October 22nd 2013 via Hootsuite
TIL that a family in Sweden gets 350 paternity / maternity days off from work that is valid until the kid is 8 y.o., on top of 7w vacation
7:25pm October 22nd 2013 via Hootsuite
Reich: 'In contrast, no evidence of hybrid sterility in present-day humans'. (European ancestry in 30K African-Americans) #ASHG2013
7:18pm October 22nd 2013 via Hootsuite
Reich: X-chr. - esp. strong selection against Nean'l. From flies - 'the large X effect'; possible explanation. #ASHG2013
7:16pm October 22nd 2013 via Hootsuite
Reich: These deserts are gene rich, functional, selection to remove Nean'l ancestry. 10Mb large - 'removed quickly' #ASHG2013
7:15pm October 22nd 2013 via Hootsuite
Reich: "Most striking: the Neanderthal ancestry 'deserts'" 10Mb large, not by chance. #ASHG2013
Reich: Mapping back to East Asian individual (CHB HapMap), Cp to Europeans. #ASHG2013
7:13pm October 22nd 2013 via Hootsuite
Reich: Now trace back common risk factors from Neanderthals. (T1D in Latinos) #ASHG2013
Reich: About five different groups flow of genes into modern humans. 2% Neandertal introduce many new variants unseen before. #ASHG2013
7:12pm October 22nd 2013 via Hootsuite
Reich: Neandertal gene flow into Denisovan. 'Den's have ancestry from an unk. archaic population unrelated to Nean's' #ASHG2013
7:03pm October 22nd 2013 via Hootsuite
Reich: Altai highly inbred. 18Mb of homozygosity (!) "Huge chunks" of shared ancestry, 1/8th the genome shared. #ASHG2013
7:02pm October 22nd 2013 via Hootsuite
Reich: Population differences: 1/3 or 1/6 the heterozygosity. Diversity of population - among smallest of any organism. #ASHG2013
7:01pm October 22nd 2013 via Hootsuite
Reich: Same cave, toe bone, 'Altai Neandertal'. Denisova - in-between modern human and Neandertal. #ASHG2013
7:00pm October 22nd 2013 via Hootsuite
Reich: Neandertals 30-230kya. Modern humans <200kya. 'Magical Denisova cave' - a distal finger bone from a girl. #ASHG2013
6:59pm October 22nd 2013 via Hootsuite
David Reich, HMS: Population history from a high-coverage Neandertal genome. #ASHG2013
6:58pm October 22nd 2013 via Hootsuite
Lawrence: XIST cDNA removed complicating regularity elements. 'XIST alone is sufficient for chrom. silencing' #ASHG2013
6:56pm October 22nd 2013 via Hootsuite
Lawrence: Comment from audience: "Just beautiful" #ASHG2013
6:54pm October 22nd 2013 via Hootsuite
Lawrence: As a result of trisomy silencing, a volcano plot looking at genes / pathways changing most. (FDR vs. FC) #ASHG2013
6:51pm October 22nd 2013 via Hootsuite
Lawrence: Inducible system, both iso-genic and iso-epigenetic. XIST 5d later: proliferation; neural progenitor cells form rosettes #ASHG2013
6:49pm October 22nd 2013 via Hootsuite
Lawrence: Created an inducible 'disease in a dish' model, iPS cells due to pluripotency. Can use a drug screen to mimic reversal #ASHG2013
6:46pm October 22nd 2013 via Hootsuite
Lawrence: Looked at methylation analysis across Chr21. 'First convergence of 2 broad fields'. Chrom. regulation / pathology #ASHG2013
Lawrence: SNP analysis also showed this; microarray showed gene exp. change per chromosome #ASHG2013
6:43pm October 22nd 2013 via Hootsuite
Lawrence: FISH used to assess transcription foci. Nature reference: http://t.co/ZySROtGYPZ #ASHG2013
6:42pm October 22nd 2013 via Hootsuite
Lawrence: XIST into Chr21, got it to work. Jiang et al Nature Aug 2013. Silencing demonstrated via 8 methods. #ASHG2013
6:41pm October 22nd 2013 via Hootsuite
Lawrence: Chr21 SFN cost was $50K-$100K, done free by Sangamo. Done in iPS, could provide therapeutic cells. #ASHG2013
6:39pm October 22nd 2013 via Hootsuite
