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NIGMS to Provide $3M for Development of New Methods to Understand the Role of Sequence Variants

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The National Institutes of General Medical Sciences has set aside $3 million in fiscal year 2013 to fund the development of new experimental and computational approaches to determine the functional relevance of human DNA sequence variants.

According to a recent funding opportunity announcement, NIGMS is seeking applications that use biochemical, cellular, bioinformatic, statistical, or high-throughput methods to interpret DNA sequence variation in a well-phenotyped population. Proposed studies should use existing DNA sequence and phenotype data.

Next-gen sequencing has revealed many rare sequence variants, the institute notes, the interpretation of which will require novel strategies.

Studies have found "that everyone's genome is riddled with loss-of-function and gain-of-function mutations as well as copy variants," GWAS projects have identified variants with small effects, and non-coding regions as well as genetic background have proven important in determining phenotype.

However, there are "few strategies available" to determine which variations at a genetic locus are biologically important. Also, mechanisms by which variations at several loci work together to produce a particular phenotype need to be defined, according to the institute.

The solicitation results from a workshop entitled "Next Generation Approaches to Understanding Human Phenotypes and Genetic Diseases" that NIGMS held earlier this year, which identified barriers and strategies needed for validating the functional and clinical consequences of sequence variants.

Applications are due Feb. 17, and the earliest start date is Dec. 1, 2012. More information is available here.

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