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
RT @cshperspectives: #AGBT15 folks interested in Cold Spring Harbor precision medicine journal, talk to me or Elaine Mardis (or @ reply) ht…
10:13am February 26th 2015 via Twitter Web Client
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
EM: Will open up CIViC crowdsourcing at #ASCO15 later this year. Var & evidence statements included. #AGBT15
10:02am February 26th 2015 via Hootsuite
EM: CIViC database http://t.co/xIQTqYdx8k a clinical data curation of cancer variants. Open-source, crowd-sourced info sharing #AGBT15
EM:Sometimes predominant mut's missed; DoCM website is a KB-based approach to the cancer genome http://t.co/HEqgcobNIa #AGBT15
10:00am February 26th 2015 via Hootsuite
EM: 2nd ref: Ramikissoon et al '13 http://t.co/tSNf2LvXBP #AGBT15
9:59am February 26th 2015 via Hootsuite
EM: Now onto pediatric low-grade glioma. Example of non-resp to chemo; ~500 somatic SNVs. Themes Zhang '13 http://t.co/eGdfNF3P9z #AGBT15
9:58am February 26th 2015 via Hootsuite
EM: Looking at 0d & 30d retrospectively (with long-term followup): everyone is highly different. #AGBT15
9:55am February 26th 2015 via Hootsuite
EM: Proposing WES, augmented with RMG probes for 259 AML genes and transcriptome sequencing. Blog post: http://t.co/dcYdE7SGal #AGBT15
9:53am February 26th 2015 via Hootsuite
EM: Adding genomics to AML - 200 samples contrib to TCGA published in NEJM 2013 here http://t.co/tUaiEJuuYH #AGBT15
9:48am February 26th 2015 via Hootsuite
EM: Extraordinary filtering to make up for absence of matched normals; mutation rates recapitulate TCGA results PIK3CA, MLL3 etc #AGBT15
9:45am February 26th 2015 via Hootsuite
EM: Ave 25yo FFPE 'a tragedy' due to degradation of nucl acids. 50-300ng input; 83 gene panel probes; 625/632 passed (80% >20x) #AGBT15
9:44am February 26th 2015 via Hootsuite
EM:For estrogen receptor + br ca: acknowledges @susangkomen grant. Nielsen 2010 http://t.co/NHq6faCH0m #AGBT15
9:42am February 26th 2015 via Hootsuite
EM: Will touch on 4 areas: markers of late relapse ER+ disease, translating AML, challenges to transition... #AGBT15
9:40am February 26th 2015 via Hootsuite
Elaine Mardis, Washington University School of Medicine. “Technical and Informatics-Based Developments in Cancer Genomics” #AGBT15
9:39am February 26th 2015 via Hootsuite
EE:A2:You have to get outside the RL limitation, why BAC-based sequencing is used. #AGBT15
9:37am February 26th 2015 via Hootsuite
EE:Q:Optical mapping, UPenn obs. to 70kb A:A small proportion of total events; repeat structure longest RL the limitation #AGBT15
9:36am February 26th 2015 via Hootsuite
RT @KMS_Meltzy: It all comes back to the BACs #AGBT15
9:35am February 26th 2015 via Hootsuite
