Tweets from Hootsuite

Chakravarti: List of genes enriched for deleterious SNVs - 71% of pts have min 1. ID from RNA-Seq from mouse gut; ID 64 new genes #AGBT14

9:26am February 13th 2014 via Hootsuite

Chakravarti: Sema2D and Sema3C are likely ENS genes. RNA in-situ stains (perhaps ACBio technology) #AGBT14

9:20am February 13th 2014 via Hootsuite

Chakravarti: RET polymorphisms have multiple levels of regulation, 'shadow' enhancers; examine mut's in embryonic mice. Common risk #AGBT14

9:17am February 13th 2014 via Hootsuite

Chakravarti: RET-EDNRB has critical interaction; epistasis in both mice and human. Carrasquillo et al AGBT14 Publ: http://t.co/dec3MfLRNV

9:14am February 13th 2014 via Hootsuite

Chakravarti: Q: how does HSCR develop, and which genes involved? GPCR gene, RET cancer gene: It's disruption of cellular interaction AGBT14

9:12am February 13th 2014 via Hootsuite

Chakravarti: List of many genes via linkage, assoc., gene dosage - past 20y many genetic features now explained. AGBT14

9:11am February 13th 2014 via Hootsuite

Chakravarti: 1/5K Europeans; 2x Asians: no nervous supply to the gut. Multi-factor inh.; 4% recurr. risk to sibs. 4:1 male:female AGBT14

9:10am February 13th 2014 via Hootsuite

Chakravarti: Enteric Nervous System - same sets of genes expressed as CNS. Arose in echinoderms; Hirschsprung - no enteric ganglia AGBT14

9:09am February 13th 2014 via Hootsuite

Up first: A. Chakravarti (Hopkins): Hirschspring Disease AGBT14

9:06am February 13th 2014 via Hootsuite

RT @erlichya: Great summary of #AGBT14 day1 http://t.co/lxm8KoR2sA by @Genohub

9:05am February 13th 2014 via Hootsuite

Quantitative targeted RNA sequencing | PNAS http://t.co/egMBQD5aWh Barcoding individual cDNAs - an idea I first hear yrs ago h/t @sjcockell

6:23am February 13th 2014 via Hootsuite

RT @iontorrent: Caption this photo and DOWNLOAD the Amazing Century of Science calendar at http://t.co/iklF8hFIqJ http://t.co/nThwYxW1WV

4:25am February 13th 2014 via Hootsuite

RT @Genohub: Schnieder: switch now: http://t.co/0bGZivR2kq #AGBT14

6:27pm February 12th 2014 via Hootsuite

Schneider:: Existing aligners are not alt loci-aware; tools 'in development' #AGBT14

6:23pm February 12th 2014 via Hootsuite

Schneider: Using alt loci, paralogues can now be analyzed with important implications; gave example of deletion allele #AGBT14

6:21pm February 12th 2014 via Hootsuite

Schneider: Now alt loci scaffolds - capturing alternative haplotypes instead of combining them. Retain linear chromosome models. #AGBT14

6:20pm February 12th 2014 via Hootsuite

Schneider: Gave example of paralogous genes of HYDIN2 (300kb), and how sequences were mixed in prior assy; is it a SNP or not? #AGBT14

6:18pm February 12th 2014 via Hootsuite

Schneider: GRC took centromere models and filled in 3Mb gaps based on new data, should open up a new area of centromere biology #AGBT14

6:14pm February 12th 2014 via Hootsuite

Schneider: Karen Miga centromere data reference in Genome Res http://t.co/YWMdo1ixrC #AGBT14

6:11pm February 12th 2014 via Hootsuite

Schneider: Arrays vary between individuals, a complex challenge. Collab with UCSC, recently published in Genome Res #AGBT14

6:10pm February 12th 2014 via Hootsuite

Schneider: Repetitive centromeric sequence - alpha satellites, 17bp repeats. And arranged in longer arrays... #AGBT14

6:09pm February 12th 2014 via Hootsuite

Schneider: Centromere sequences are impt - and include variation. Common conception is 'difficult to seq' - but assembly is missing #AGBT14

6:09pm February 12th 2014 via Hootsuite

Schneider: 100 genes now have coding alleles due to improved quality of the assembly #AGBT14

6:08pm February 12th 2014 via Hootsuite

RT @deannachurch: #agbt14 more data and stats at http://t.co/KXrYVh4Cyt and @NCBI annotation is out: http://t.co/0b5CEgXTV4 #bioinformatics

6:07pm February 12th 2014 via Hootsuite

Schneider: GRC collaborating with TGP - 15,244 with MAF=0, other areas from other groups used to update 20k bases total #AGBT14

6:05pm February 12th 2014 via Hootsuite

Schneider: Example TWIST2 gene on Chr 2, referred to Jim Knight and Stephan Schuster's poster here at mtg #AGBT14

6:03pm February 12th 2014 via Hootsuite

RT @StevenNHart: I just can't wait to go home and redo all my work from the last year. #AGBT14 #hg38

6:02pm February 12th 2014 via Hootsuite

Schneider: Other changes had not been released - 1K of them. 178 regions with alt loci; 261 alt loci scaffold. 3.6Mb sequence #AGBT14

6:01pm February 12th 2014 via Hootsuite

Schneider: 2009 rel - had alternate assembly regions. Different kinds of patches - new sequence and 'fix' patches 8MB added. #AGBT14

5:59pm February 12th 2014 via Hootsuite

Schneider: CRCh38 new assembly released Dec 24 2013. "It was time for an update... whether or not it was on your wishlist" #AGBT14

5:58pm February 12th 2014 via Hootsuite

RT @wateresa: Next up, Valerie Schneider of @NCBI on GRCh38 (hg20), the latest human #genome reference assembly. #AGBT14

5:56pm February 12th 2014 via Hootsuite

I'm enjoying @neilhall_uk 's Genome Biology piece, 'It's only human", comparing Illumina's approach to the X Ten as a cartel.

5:56pm February 12th 2014 via Hootsuite

RT @becky_kusko: Too bad Jeanne Lawrence is unable to make it to #AGBT14 to give her talk, I'm so glad I was able to hear her at #ASHG

5:27pm February 12th 2014 via Hootsuite

A snowboarding hero meets cancer survivors in Sochi | Washington Post http://t.co/lJqZUmOfrQ

5:25pm February 12th 2014 via Hootsuite

#AGBT2014 Up first: Aviv Regev (Broad Inst.) "Dissecting cell circuts from variation between single cells"

4:42pm February 12th 2014 via Hootsuite

Eric Green (NHGRI Director) greeting the crowd at #AGBT2014 http://t.co/bGWjI2otk0

4:35pm February 12th 2014 via Hootsuite

TIL that i.e. can be remembered as 'in essence' and e.g. as 'example given'.

4:25pm February 12th 2014 via Hootsuite

RT @cathcoste: The online courses you need to take now to understand digital health http://t.co/VjYlXSlbG3 via @Rock_Health

3:25pm February 12th 2014 via Hootsuite

The @LIFECorporation Variant Showcase is open at #AGBT2014 http://t.co/PUeX4ioWLx Come by everyday for a special drawing Friday nite!

2:29pm February 12th 2014 via Hootsuite

RT @marketingwizdom: Excellent. From @HarvardBiz - Five Ways #Twitter Can Help You Conquer Distraction http://t.co/AxDHi6U7uK

2:25pm February 12th 2014 via Hootsuite

Vast Study Casts Doubts on Value of Mammograms - NYTimes http://t.co/FAbCiEIgi7

1:25pm February 12th 2014 via Hootsuite

RT @pdipao: US share of cloud computing likely to drop after NSA revelations - The State http://t.co/z6v2vU2Bpa

12:25pm February 12th 2014 via Hootsuite

RT @dgmacarthur: Hard to imagine a more deserving recipient of the NIH Pioneer award than Jay Shendure: http://t.co/zHLCwYw6Pp

11:25am February 12th 2014 via Hootsuite

There’s something suspicious about using statistics to test statistics | Science News http://t.co/lb1FjbaXf9 h/t @bioinformer

10:25am February 12th 2014 via Hootsuite

Bacon a food trend that won't go away | Marketwatch http://t.co/RBweoIwHCi

6:20am February 12th 2014 via Hootsuite