RT @bioinfomagician: This t-shirt from @iontorrent is very true considering my twitter handle. #AGBT15 http://t.co/jmObJafO2C
3:11pm February 26th 2015 via Hootsuite
DP: Two Y chr BACs from 1 male: over 105kb overlap, 161kb + 178kb. 11 nt subst in 105kb; 99.99% identity; opposite arms. #AGBT15
3:10pm February 26th 2015 via Hootsuite
DP: Avoid assembly confounding problems; seq only 1 chr. Capture a few differences w/BACs from one indiv. Seq & map as 1 activty #AGBT15
3:09pm February 26th 2015 via Hootsuite
DP: The Y-ch has 8 massive palindromes. 2003 Nature http://t.co/Yvsosvvffs Arms more similar than alleles #AGBT15
3:08pm February 26th 2015 via Hootsuite
David Page, Whitehead Institute “What SHIMS (Single Haplotype Iterative Mapping and Sequencing) Has Taught Us About Sex Chromosomes” #AGBT15
3:05pm February 26th 2015 via Hootsuite
EG:Cites beginning of the HGP in Feb 1990, the early days. Ends with a call from the White House asking for >his< DNA model... #AGBT15
12:01pm February 26th 2015 via Hootsuite
EG: Interim workshop report in Sept 15. Main site: http://t.co/fz1gKU8r5N White House Blog: http://t.co/w4i24BokTT #AGBT15
11:59am February 26th 2015 via Hootsuite
EG: Posted video archive, 'the first of many workshops'. White papers, lots of issues to deal with. #AGBT15
11:57am February 26th 2015 via Hootsuite
EG:Need new ways to engage participants; new way for multi-disciplinary work; NIH workshop website here http://t.co/dH6MGfpEUd #AGBT15
EG: Also data science has matured; also the patient partnerships (existing cohorts, citizen science, crowdsourcing) #AGBT15
11:55am February 26th 2015 via Hootsuite
EG: Collins piece from 2004 http://t.co/JAXPhV8Mni calling for basically the same thing. Why now? Genomics, EHR, tech (sensors) #AGBT15
11:54am February 26th 2015 via Hootsuite
EG: EHR 'is key to this', >1M US volunteers, numerous existing cohorts and new ones. Forge new model for 'doing science' #AGBT15
11:53am February 26th 2015 via Hootsuite
EG:The vision - near term, longer term, and policy changes. Points to E Lander's NEJM piece http://t.co/OR6iUhN5fJ #AGBT15
11:52am February 26th 2015 via Hootsuite
EG: Shared political support quoted in the NYT http://t.co/AntLadEbTT Invited everyone to read this NEJM http://t.co/k1RVPZOLHd #AGBT15
11:49am February 26th 2015 via Hootsuite
EG: A photo from F Collin’s living room when the SOTU address made about #PrecisionMedicine http://t.co/Jw4j6jlmoR #AGBT15
11:48am February 26th 2015 via Hootsuite
EG: Great photo from Francis Collin's living room, some 15 people all around the TV at that moment. #AGBT15
11:45am February 26th 2015 via Hootsuite
EB: (Okay, maybe it was 6 sentences.) Included shot of standing ovation from both sides of the aisle. 'Rarely' does that happen. #AGBT15
11:44am February 26th 2015 via Hootsuite
EG: 'We really didn't know what he'd say at the State of the Union address'. Showed video of the 3 sentences devoted to it. #AGBT15
11:43am February 26th 2015 via Hootsuite
EG: In mid-June 2014 - the organizing began (behind the scenes). Presented Oct 14 to the White House. Nov 14 green-lighted #AGBT15
11:42am February 26th 2015 via Hootsuite
EG: The National Med. Council's report available here: "Toward Precision Medicine" (PDF) http://t.co/8Cv4Cq6elX #AGBT15
11:41am February 26th 2015 via Hootsuite
EG: Precision: a broader context for 'individualizing' medical care. Nat'l Res Council report from 2011 'Toward Precision Medicine' #AGBT15
11:40am February 26th 2015 via Hootsuite
EG:Senator Obama had bill S.3822 never passed, in 2006. "valid, reliable and accurate molecular genetic tests by all populations' #AGBT15
11:39am February 26th 2015 via Hootsuite
Eric Green, NHGRI “The U.S. Precision Medicine Initiative” FWIW I blogged about it here: http://t.co/nospUHilxk #AGBT15
11:38am February 26th 2015 via Hootsuite
CB:Q:PhenoCap technology? A:Agnostic, both @iontorrent and @illumina also moleculo #AGBT15
11:37am February 26th 2015 via Hootsuite
CB:Q:Relative cost? A:Down to $75-$80 #AGBT15
11:36am February 26th 2015 via Hootsuite
CB:Q:Can you get STRs from this tech? A:If HMW DNA can be obtained, yes. But their samples - very old. #AGBT15
CB:PCA can geolocate between FR/CH center to UK in the north. Fast, inexpensive, straightforward sep of mixtures for forensics #AGBT15
11:34am February 26th 2015 via Hootsuite
CB: Different fractions from 4 sources; 2.4-28M reads; ChrX map close to 3%, 0.2% to chrY; perpetrator 'likely of N Euro descent' #AGBT15
11:32am February 26th 2015 via Hootsuite
CB:Hair color, hair shading, eye color. Now PhenoCap applied to admixure for a cold case from 1980's. @iontorrent sequenced #AGBT15
11:30am February 26th 2015 via Hootsuite
CB:Smaller samples (pg), PhenoCap v2 has mtDNA, Y, 3.5k phenotypically impt SNPs. Peru sample: 1M reads on v1 mostly 100% coverage #AGBT15
11:29am February 26th 2015 via Hootsuite
CB:Moving on to targeted capture for forensics - 'could provide much more info' w/ a streamlined workflow #AGBT15
11:28am February 26th 2015 via Hootsuite
CB:mtDNA's were sub-Saharan origin; autosomic data 'fascinating' - Malagsy/Euro, India, S. Asia, Indonesian #AGBT15
11:26am February 26th 2015 via Hootsuite
CB: Le Morne site - a hiding place for escaped slaves; cliff suicides w/remains at bottom of cliff. Samples from there & cemetary #AGBT1
11:25am February 26th 2015 via Hootsuite
CB:Add'd admixture from indentured workers (1834-1910) and further Euro immigration #AGBT15
11:24am February 26th 2015 via Hootsuite
CB:PCA ID's origins of samples in western Africa; Mauritius - started population from the slave trade (from Madagascar) 1721-1810 #AGBT15
11:23am February 26th 2015 via Hootsuite
CB:Y-chr haplogropy of STM-1 sample was subgrp R1b-V88 - high freq in Cameroon 'back to Africa migration' #AGBT15
11:22am February 26th 2015 via Hootsuite
CB: WGS from ancient DNA (aDNA) from St Martins of 3 individuals. Schoeder et al PNAS (in press) #AGBT15
11:21am February 26th 2015 via Hootsuite
CB:Illustrating the African slave trade - the largest forced relocation in world history. Figure: http://t.co/ckQisfmYcq #A5BT14
11:20am February 26th 2015 via Hootsuite
CB:Ancient DNA is 'all the rage'. Example from ASHG (blog) http://t.co/fZXq6Q0YYx Published '13 http://t.co/DN4BqER3Lg #AGBT15
11:19am February 26th 2015 via Hootsuite
Carlos Bustamonte (Stanford Univ) “PhenoCap: A Targeted Capture Panel for Comprehensive Phenotyping of Forensic DNA Samples” #AGBT15
11:16am February 26th 2015 via Hootsuite
NL-B:Publication set for March Cell 2015 Rubio-Perez et al (in press) #AGBT15
11:12am February 26th 2015 via Hootsuite
RT @euanashley: Lopez-Bigas: 96 drivers targeted by drugs (51 currently approved), 379 non-targeted (35 potentially druggable) #agbt15
11:07am February 26th 2015 via Hootsuite
RT @LAbizar: Nuria #AGBT15 475 drivers, 96 targeted by drugs. 35 more potentially druggable. In Cancer Drivers Actionability Database.
11:06am February 26th 2015 via Hootsuite
EM:Q:Cp to PharmGKB? A:DGI also queries; meant to be more comprehensvie. GKB is more focused to Pharmacogenomics #AGBT15
10:14am February 26th 2015 via Hootsuite
EM: New journal Molecular Case Studies for precision medicine http://t.co/sOnB0GIqaH invites manuscripts #AGBT15
10:12am February 26th 2015 via Hootsuite
EM: Showed in press figure of CD8+ T-cell response to 'somatic' peptides over 20 days #AGBT15
10:10am February 26th 2015 via Hootsuite
EM: Came up with 10 candidates, GMP peptides fed into a dendritic cell platform, IND protocol. Conditioned cells given back #AGBT15
EM: Multiple samples of melanoma, ID highly mutated RNA exp; ID MHC mutated vs WT. Take apheresis sample, look in-vitro to peptides #AGBT15
10:09am February 26th 2015 via Hootsuite
EM: Immunoepitope discovery via cancer genomics: since cancer exp new proteins, what are the most different epitopes? #AGBT15
10:07am February 26th 2015 via Hootsuite
EM:Drug Gene Interaction db: http://t.co/CoRgEVWRzS Other db's available through this tool. Nature Meth '13 http://t.co/guwH6NniDy #AGBT15
10:05am February 26th 2015 via Hootsuite
