IGF::OT::IGF - B5999 SPECIAL STUDIES/ANALYSIS- OTHER

Broad Institute, Inc., Cambridge MA

Investigators

Abstract

Trans-Omics for Precision Medicine (TOPMed) is an NHLBI-wide initiative to generate scientific resources to enhance our understanding of fundamental biological processes that underlie HLBS disorders through the integration of ?omics (e.g., genomic, proteomic, metabolomic) and phenotypic data in an effort to improve the prediction, prevention, diagnosis, and treatment of these disorders. To support the NHLBI TOPMed program, the Whole-Genome Sequencing (WGS) project will collect whole-genome sequencing data from individuals with well characterized phenotypes and existing clinical outcome 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 initial phase of the WGS project has identified nearly 20,000 participants from previous NHLBI-funded studies to undergo whole-genome sequencing. This first set of participants includes individuals that have complex traits (e.g., dyslipidemia) and the following heart, lung, blood and sleep (HLBS) disorders: Atrial fibrillation, Asthma, Chronic obstructive pulmonary disease (COPD), Obesity,and Sleep apnea. The objective is to establish a novel genomic resource that is reflective of the diversity of the US population. Almost half of current study participants are of European descent, with the remainder being people of African, Hispanic and Pacific Islander ancestry. Currently, the WGS project is being conducted by nine participating research centers, four sequencing centers, an informatics research center, and a Data Coordinating Center (DCC). As the project progresses, it is anticipated that other centers will join the consortium. The National Center for Biotechnology will provide archival and bioinformatics support.