Broad Institute receives approximately $40 million grant from National Heart, Lung and Blood Institute for whole genome sequencing of 20,000 people

Broad Institute to again expand ability to sequence whole genomes; NHLBI project will help Broad more than double the number of genomes sequenced annually

Oct 08, 2015, 11:36 ET from Broad Institute

CAMBRIDGE, Mass., Oct. 8, 2015 /PRNewswire/ -- The National Heart, Lung and Blood Institute (NHLBI) has awarded approximately $40 million to the Broad Institute of MIT and Harvard to provide large-scale whole genome sequencing of 20,000 individuals, as well as data to support smaller pilots in transcriptome sequencing and metabolite profiling.

This project is part of NHLBI's Trans-Omics for Precision Medicine (TOPMed) program and serves as an initial step toward a larger initiative, which will use whole genome sequencing to drive genetic discovery in complex disease, providing a resource for discovery of factors that influence disease risk, identification of disease subtypes, and development more targeted and personalized treatments.

"We are deeply committed to genomic data generation at high quality and at the scale needed to take on the most important projects," said Stacey Gabriel, Sr. Director of the Broad Institute Genomics Platform. "The Broad Institute Genomics Platform is well-suited to expand our capabilities for TOPMed and take on the challenge of delivering on the NHLBI's goals. We have already made a great start this year by sequencing thousands of individuals from the Framingham Heart Study and patients with Atrial Fibrillation in the first phase of TOPMed. Now we will be able to seamlessly scale to enable these new large projects to directly benefit studies in the genetics of disease."

The TOPMed study will provide a more comprehensive view of the genome, aimed at further understanding of the genetic architecture relevant to heart, lung, blood and sleep disorders (HLBS). In addition, the program aims to couple whole genome sequencing with additional phenotype data using integrative "omics" approaches through the incorporation of DNA methylation, RNA expression patterns and metabolic profiling with phenotypic and clinical outcome data from prior studies focused on HLBS disorders.

The Broad Institute Genomics Platform has significantly expanded its fleet of sequencers to address this increase in sequencing demand.  This project, in addition to others, will require the production of roughly 35,000 genomes over the year, more than doubling the total for the past 12 months in which 14,375 genomes were completed at Broad.

About the Broad Institute of MIT and Harvard
The Eli and Edythe L. Broad Institute of MIT and Harvard was launched in 2004 to empower this generation of creative scientists to transform medicine. The Broad Institute seeks to describe all the molecular components of life and their connections; discover the molecular basis of major human diseases; develop effective new approaches to diagnostics and therapeutics; and disseminate discoveries, tools, methods, and data openly to the entire scientific community.

Founded by MIT, Harvard, and its affiliated hospitals, and the visionary Los Angeles philanthropists Eli and Edythe L. Broad, the Broad Institute includes faculty, professional staff, and students from throughout the MIT and Harvard biomedical research communities and beyond, with collaborations spanning over a hundred private and public institutions in more than 40 countries worldwide. For further information about the Broad Institute, go to

About the NHBLI
Part of the National Institutes of Health, the National Heart, Lung, and Blood Institute (NHLBI) plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The Institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI press releases and other materials are available online at

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SOURCE Broad Institute