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NHLBI to Fund Follow-Up Studies to 'Fill in Gaps' of Stimulus-Funded Exome Sequencing Project

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This article was originally published Dec. 12.

The National Heart, Lung, and Blood Institute plans to fund research that aims to "identify and fill in specific gaps" in exome sequencing data of 7,500 samples from a previous, stimulus-funded project.

The number of awards to be made, which will have a maximum length of four years and size of $1.5 million, is "contingent upon NIH appropriations and the submission of a sufficient number of meritorious applications," according to a recent funding opportunity announcement.

The new program builds on the NHLBI GO Exome Sequencing Project, which sequenced the exomes of 7,500 samples from well-phenotyped NHLBI populations, with the goal to discover all variants and to link them to heart, lung, and blood diseases. The project was one of several "Grand Opportunity," or GO, awards under American Recovery & Reinvestment Act of 2009.

The phenotypes analyzed in that project included early-onset myocardial infarction, extremes of low-density lipoprotein, high body mass index with and without type 2 diabetes, early-onset ischemic stroke, extremes of blood pressure, cystic fibrosis, chronic obstructive pulmonary disease, pulmonary hypertension, acute lung injury, asthma, and subclinical/quantitative traits.

So far, NHLBI has released variation calls, raw exome data, and harmonized phenotype data for the first 1,000 exomes, and plans to release the remaining data to the scientific community through dbGaP within the next four to six months. SNP data is already available for the first 2,400 exomes through dbSNP and the GO ESP Exome Variant Server.

According to NHLBI, the next step will be to identify those variants that have both a large effect and are sufficiently frequent to be important in heart, lung, and blood diseases.

However, "the short time-frame for the GO ESP effort has allowed only limited replication," the institute said. While for some phenotypes "more exomes may be needed to increase sample size prior to replication," for others, "the findings may be ready for replication with targeted sequencing or genotyping."

The research to be funded will require "multidisciplinary collaborations" between epidemiologists, population geneticists, statistical geneticists, laboratory genomics experts, and disease experts.

Potential gaps in the existing data may relate to "ethnic diversity, phenotypes that need additional power, analysis of the data in different ways, further validation of findings, and replication of follow-up studies in well-chosen cohorts."

Applications are due Feb. 8, and the earliest start date is December 2012. More information is available here.

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