Wray: On top is the polygenic risk score for each disease. #ASHG15
6:12pm October 6th 2015 via Hootsuite
Wray: For 1M, 1% means only 10K cases; not a design for standalone discovery. External GWAS, to a hub of the population. #ASHG15
Wray:Multi-omics is just new QTLs: heritability of methylation. #ASHG15 http://t.co/9zeF34zP3M
6:09pm October 6th 2015 via Hootsuite
Wray: What traits to measure? BMI used 350K; 120 QTL association, >10K. A single protocol, longitudinal measures, multi-omics #ASHG15
6:07pm October 6th 2015 via Hootsuite
Wray: Now can use new methods to adjust for ethnicity; uses figure from Nature Gen IBD paper: http://t.co/SweJ5HGN9t #ASHG15
6:06pm October 6th 2015 via Hootsuite
Wray:PCA of GWAS of E Asian, European, African; but across GERA 78K, realistic picture. 6% mixed (self-report), 17% admixed #ASHG15
6:04pm October 6th 2015 via Hootsuite
Wray: What would you do with 1M deeply phenotyped and genotyped individuals? Mentions Neil's 1996 and 2000 pubs. #ASHG15
6:03pm October 6th 2015 via Hootsuite
Naomi Wray (Univ Queensland) "Studying genetic variation in large cohorts" #ASHG15
6:02pm October 6th 2015 via Hootsuite
Hunter:Even bolder: a National Exposure questionnaire; enroll through HPO and refine EHR diagnostics, and train for the future #ASHG15
6:01pm October 6th 2015 via Hootsuite
Hunter: Alt model: central posting of association results w/o publication. #ASHG15
6:00pm October 6th 2015 via Hootsuite
Hunter: No good models of returning 'very very complex data' back to participants over time. Current biobank model needs to change #ASHG15
5:59pm October 6th 2015 via Hootsuite
Hunter: Case 3 with Warfarin and CYP2C9 and another variant, but is it accurate? Cohort studies - no information coming back #ASHG15
5:58pm October 6th 2015 via Hootsuite
Hunter: Precision Medicine: are we accurate? 3 situations: off-label for tumor mutation; non-syn mutation in ALS, too rare... #ASHG15
5:57pm October 6th 2015 via Hootsuite
Hunter: Disease outcome assessment: needs standardization between EHRs, 'churn' at HPO's, changes in addresses, lack of single-payer #ASHG15
5:55pm October 6th 2015 via Hootsuite
Hunter: Gizmos - NIEHS/NHGRI Genes-Environment Initiative from '06: 'few new options applicable to large population-based studies' #ASHG15
5:54pm October 6th 2015 via Hootsuite
Hunter: "The 'exposome' is a conceptual definition - and can change substantially over time" #ASHG15
5:52pm October 6th 2015 via Hootsuite
Hunter: Points to NHGRI's PhenX Toolkit website as a resource: http://t.co/TaFVOcHQ4Y #ASHG15
5:51pm October 6th 2015 via Hootsuite
Hunter: Exposure assessment: how to evaluate lifestyle? Interviews, biomarkers, and 'Gizmos'. Interviews are low-tech. #ASHG15
5:50pm October 6th 2015 via Hootsuite
Hunter: Major cohort studies - over 1.2M in total,10% African-American. Generalizability: Framingham generalized to white men/women #ASHG15
5:48pm October 6th 2015 via Hootsuite
Hunter: Shows Risch and Merikangas paper from 1996 PubMed http://t.co/XEHLjhHOKo Then GWAS 10y later. Now PMI. 'Think exposure' #ASHG15
5:43pm October 6th 2015 via Hootsuite
David Hunter (Harvard) "Personalized medicine, an epidemiological perspective" #ASHG15
5:41pm October 6th 2015 via Hootsuite
Collins: Time-axis is TBD for implementation. Staff, protocol, portal, IRB, biobank, HPO, volunteers, coordination etc etc #ASHG15
5:40pm October 6th 2015 via Hootsuite
Collins: Enables targeted clinical trials - reconsent ability. Federal Register Proposed Rule Comment open http://t.co/m9zEZvNILY #ASHG15
5:39pm October 6th 2015 via Hootsuite
Collins: The list of scientific opportunities for #PMINetwork is long - PGx, quantitative risk estimates; new biomarkers; LoF mut's #ASHG15
5:36pm October 6th 2015 via Hootsuite
Collins: For rare diseases, even 1M is not enough. Lots of data sources; group derived an initial core set. Samples are blood, urine #ASHG15
5:34pm October 6th 2015 via Hootsuite
Collins: Long list of participants in the working group, from March to Sept. PDF of 108pp report: http://t.co/LuaBaNUGEm #ASHG15
5:33pm October 6th 2015 via Hootsuite
Collins: Participants involved in design, interpretation; can state preferences; consented for recontact. #ASHG15
5:31pm October 6th 2015 via Hootsuite
Collins:Also possible to allow anyone to volunteer, for 'this grand adventure'. A challenge but they have a plan, even in '16 #ASHG15
5:30pm October 6th 2015 via Hootsuite
Collins:Also outreach to under-represented groups, research oppy's and where EHRs available in community health centers 'a stretch' #ASHG15
5:29pm October 6th 2015 via Hootsuite
Collins:Cohort's goal:>1M US volunteers. Numerous existing cohorts, have consent and EHRs. Kaiser, Geisinger: much potential #ASHG15
Collins: PMI for Oncology: Uses NCI-MATCH as a model. Webpage here: http://t.co/AYNdBkl0s0 $70M for FY16. ID new subtypes, targets #ASHG15
5:27pm October 6th 2015 via Hootsuite
Collins: Mentioned the Inst. Of Medicine's Precision Medicine Report from a few years ago available here http://t.co/Nq95cyzMBR #ASHG15
5:26pm October 6th 2015 via Hootsuite
Collins:And of course genomics, and data science. BD2K effort to take on this effort. Website: http://t.co/gUnWn3zRhR #ASHG15
5:25pm October 6th 2015 via Hootsuite
Collins: Components: Pt partnerships; EHRs; Technologies (particularly wearable sensors, a great 'window into real-time assessment) #ASHG15
5:23pm October 6th 2015 via Hootsuite
Collins: Points out this 2004 article http://t.co/AKZdtnwgMs that was not possible due to expense. now feasible #ASHG15
5:22pm October 6th 2015 via Hootsuite
RT @girlscientist: .@NIHDirector taking stage #ASHG15, or "my tribe," to tell us about the PMI. http://t.co/dFAleK5eyf
5:21pm October 6th 2015 via Hootsuite
Collins: Starts with the State of the Union video - points out the standing ovation regarding the Precision Medicine Initiative #ASHG15
Collins: Comments on going from sib-pairs and T2D and conceptually to the HapMap and GWAS. #ASHG15
5:19pm October 6th 2015 via Hootsuite
Collins: His first ASHG was 32 years ago. "I was captivated" and hopes others in this audience will be too... #ASHG15
5:17pm October 6th 2015 via Hootsuite
Francis Collins (Director, NIH) "The U.S. Precision Medicine Initiative" #ASHG15
5:16pm October 6th 2015 via Hootsuite
Risch: Concludes with a sing-along (with different words) "Segregation and linkage too." "Didn't need no BioMek..." #ASHG15
5:12pm October 6th 2015 via Hootsuite
Risch: Importance of mentorship: how impt to talk about failures. Esp true 'for minority students who may lack confidence' #ASHG15
5:10pm October 6th 2015 via Hootsuite
Risch: On transmission within families: a direct influence on how children feel. "And this is what really matters" #ASHG15
5:09pm October 6th 2015 via Hootsuite
Risch: Biological explanation for homosexuality - 'they change every year' Daily Beast article: http://t.co/BoPqEo9av1 #ASHG15
5:07pm October 6th 2015 via Hootsuite
RT @spwells: Loving the livestream of Neil Risch's ASHG presidential talk...this slide was a highlight. #ASHG15 http://t.co/3YxKtUBl67
5:05pm October 6th 2015 via Hootsuite
Risch: Public perceptions of race and gender? Transgender OK but transracial not? Trans-religion? Poll on Obama's religion (!) #ASHG15
Risch: Relating Household income & college degrees: 8-fold higher in the top quartile. #ASHG15 '12 NYT: http://t.co/v2GM3NzUi0
5:00pm October 6th 2015 via Hootsuite
Risch: Presenting a hilarious Polygenic IQ SNP Score ("PISS"), and indicating that Watson's score was CEU, and Venter's YRI... #ASHG15
4:58pm October 6th 2015 via Hootsuite
Risch: Acknowledges new BOD members, including Charles Rotimi, the first African American board member; Nancy Cox, pres-elect #ASHG15
4:52pm October 6th 2015 via Hootsuite
Risch: Discovery translation to clinical practice: it may change over time. Next: proportion of female rep. on BOD is increasing #ASHG15
4:49pm October 6th 2015 via Hootsuite
