To support the NHLBI TOPMed program, the WGS project is collecting whole-genome sequencing data from individuals with well-defined phenotypes and existing clinical outcomes data. This project aims to identify genetic markers of increased or decreased risk of disease, as well as those that help define disease subtypes. The elements of this project stem from recommendations noted in the WGS Working Group Report.
Learn more about the profile of participants who will be sequenced in the WGS project, as well as ways NHLBI plans to grow this project.
Profile of participants who will be sequenced
Since it began, the WGS project has tripled in size and now will perform whole-genome sequencing on nearly 62,000 participants from over 30 studies. Many of these participants are from the following NHLBI-funded studies:
- Atherosclerosis Risk in Communities (ARIC)
- Framingham Heart Study
- Jackson Heart Study
- Multi-Ethnic Study of Atherosclerosis (MESA)
- Women’s Health Initiative (WHI)
Among these participants are a growing number of people who have complex traits (e.g., dyslipidemia) or the following heart, lung, blood and sleep (HLBS) disorders.
- Atrial fibrillation
- Chronic obstructive pulmonary disease (COPD)
- High blood pressure
- Sickle cell disease
- Sleep apnea
- Venous thromboembolism (deep vein thrombosis and/or pulmonary embolism)
With this expanded pool of participants, the WGS project is making strides to establish the desired genomic resource that is reflective of the diverse U.S. population. Here is how current WGS project participants are represented by race and ethnicity:
- European: 50 percent
- African: 30 percent
- Hispanic/Latino: 10 percent
- Asian: 8 percent
- Other (including Pacific Islanders): 2 percent
WGS project investigators may access information at the Data Coordination Center’s Trans-Omics for Precision Medicine WGS Program home page.
Future growth and use of WGS project data
The NHLBI will continue growing this valuable WGS public data resource. NHLBI hopes to sequence over 100,000 individual genomes. As this effort expands, NHLBI will look for ways to include more underrepresented groups and HLBS disorders beyond what is currently in the WGS research portfolio. It also will look for opportunities to integrate WGS and other -omics data.
Read Potential impact on research and clinical care to learn about NHLBI’s vision for advancing research and improving clinical care by integrating WGS project and other TOPMed data sets.