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NIH to Provide $750K to Study Strategies for Sequencing Disease Regions from GWAS


By Julia Karow

This article was originally published Oct. 21.

The National Institutes of Health plans to fund three to six studies with a total of $750,000 to compare different strategies for sequencing disease-associated regions from genome-wide association studies, according to a recent solicitation.

After GWA studies have identified genomic areas associated with a disease or trait, "the next step often is to sequence many samples in the associated regions to determine their complete pattern of genetic variation" and to identify strongly associated variants, NIH said.

Different design strategies could be used for such studies — for example exon sequencing or sequencing complete gene regions, or studying samples with extreme phenotypes or the entire phenotypic distribution — but there is so far no consensus on the best approach.

To answer this question, the National Human Genome Research Institute plans to fund studies "to sequence association regions completely in large GWAS cohorts to provide standard datasets and analyses that the research community can use to study how to design sequencing studies to follow up GWAS findings."

The institute is seeking researchers who can nominate association regions for sequencing and provide "a sufficient number" of samples with genotype, phenotype, and exposure data from completed GWA studies.

Sequencing for the studies will be provided by the NHGRI large-scale sequencing centers, "using a broad design strategy that encompasses a number of more focused strategies."

Funding for the analysis of the sequence data will come from the NIH-wide Genes, Environment, and Health Initiative, and funded groups will work in a consortium with the sequencing centers and analysts to develop the broad design strategy, analyze the sequence data for the individual studies, and evaluate the various specific design strategies.

Letters of intent are due Nov. 12, and applications are due Dec. 11. More information is available here.

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