NHLBI Exome Sequencing Project

The NHLBI Exome Sequencing Project is using deep whole exome resequencing of >7,000 individuals to study genetic contributions to the risk of several heart, lung and blood phenotypes.

All sequence data generated by the project is being deposited into dbGap. Generation of sequence data is taking place at the University of Washington (overseen by Jay Shendure and Debbie Nickerson) and at the Broad Institute (overseen by Stacey Gabriel).

Regions Targeted For Sequencing

University of Washington

The exact coding regions being sequenced are evolving overtime. The exome definitions used in the project are available from:

http://droog.gs.washington.edu/~bard/exome_defs/

Different definitions for different cohort sets as outlined below:

• Phase 1 LungGO - ccds_2008
• Phase 1 WHISPGO - BMI/T2D - ccds_2008
• Phase 1 HeartGO -LDL- uwrefSeq_2009
• Phase 2 HeartGO/WISPGO - EOS - v2refseq2010