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NIGMS to Fund New Ways to Determine Functional Relevance of Human Variants

NEW YORK (GenomeWeb News) – The National Institutes of Health plans to spend $3 million in 2014 to fund research aimed at identifying new methods for evaluating the functional relevance of the many human DNA variants and mutations that are regularly being discovered in high-throughput sequencing studies .

Funded through the National Institute of General Medical Sciences, the awards will support studies that develop strategies and methods for assessing which variations at a genetic locus have biological importance and defining the mechanisms by which variations at many loci work in concert to produce a particular phenotype.

While genome-wide association studies have brought to light "a plethora of loss-of-function and gain-of-function mutations" and copy number variants, NIGMS said in its funding announcement, determining which of these are involved in the genetic basis of a particular phenotype will require new strategies for interpreting them.

"This requires a fundamental shift in both the conceptual and technical approaches currently used by human geneticists," NIGMS said.

These grants will fund efforts to develop tests, screens, and algorithms for analyzing the impact of a DNA variant on a specific function, methods for understanding how a combination of genetic changes can lead to a human trait or to a heritable disease risk, and new approaches to optimize the analysis of which variants underlie human traits.

Investigators also may develop bioinformatics approaches to use existing data to identify sequence variants with biological functions, to optimize methods for including ethnic genomic variation in determining the functional significance of variants, and to develop statistical models to identify and characterize variants.