About

The NIH National Heart, Lung, and Blood Institute (NHLBI) has committed to deep (30x coverage) whole genome sequencing for all of the collected samples from ? (now 37) of its ongoing disease-specific research projects (detailed below). The total will approach xxx,xxx individuals. The sequencing began in February 2015.

The sequencing is divided by project among seven sequencing centers: Baylor Human Genome Sequencing Center, Broad Institute, Illumina Fast Track Services, Macrogen Corp, McDonnell Genome Institute at Washington University in St. Louis, New York Genome Center, and Northwest Genome Center at the University of Washington. Working groups at the University of Washington(UW) and University of Michigan(UM) will share the tasks of data handling and project coordination. UW is designated as the Data Coordinating Center (DCC) and will coordinate phenotype information and the monthly conference calls. UM is designated as the Informatics Research Center (IRC) with responsibility for creating a unified variant call set. The sequence and genotype data will be deposited to dbGaP, initially in a special protected "Exchange Area" accessible only to project participants. It is expected that each contributing disease-specific study will write their own paper on findings from whole genome sequencing.

Within the UM component of the project, there are four commitments:

  • Track data production
  • Generate a primary call set including SNPs, short indels and structural variants
  • Conduct population genetic analyses
  • Propose cross-study analysis