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AS564 - Trans-Omics for Precision Medicine (TOPMed)

​​​​​​​​​AS564 - Trans-Omics for Precision Medicine (TOPMed)

 

Investigator Names and Contact Information

Charles Kooperberg [clk@fredhutch.org]

Introduction/Intent

For more information on the NHLBI TOPMed program visit: www.nhlbi.nih.gov/research/resources/nhlbi-precision-medicine-initiative/topmed​​

WHI investigators should be encouraged to propose papers using this data, and possibly use those proposals and the TOPMed data as basis to try to acquire analysis grants. 

Investigators interested in submitting paper proposals using TOPMed data must submit them for review to the TOPMed P&P rather than to the WHI P&P. Step one of this process is to become a TOPMed-affiliated investigator by following the instructions here: https://www.nhlbiwgs.org/new-user-instructions. TOPMed-affiliated investigators will be granted access to the TOPMed website that contains the proposal template and a guide for submitting new TOPMed paper proposals.

Materials/Methods

Whole genome sequencing (WGS) at Broad. WGS coverage performed at ~30X. Sequencing is complete and transferred to dbGaP.

VTE cases: ~1,100​​​
Ischemic stroke cases: ~4,000​
Hemorrhagic stroke cases: ~900
Non-cases (controls/cohort): ~5,100

Note: for VTE and the two stroke classes, these are essentially "all" currently available WHI cases with adjudicated outcomes, DNA (or buffy) availability, and dbGaP eligibility. The non-cases will be selected roughly as follows:

  • Non-cases will be in proportion to HT trial (per arm) and ethnicity among the combined case groups.
  • Within each (HT x ethnicity) stratum controls will be selected "fairly random", but preference will be given to WHI participants with measured biomarkers and WHI participants with already extracted DNA. (Details TBD).​