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NIH-funded researchers sequence exomes of 12 people
Date:8/16/2009

rs were able to pinpoint the causal genetic variant by applying a multi-step systematic strategy to filter out common variants and variants that were specific to each individual. The findings demonstrate that sequencing the exomes of a small number of unrelated individuals with a disorder that is due to a single gene can serve as a genome-wide scan for the causative gene. Within large population studies, the researchers suggest that exome sequencing could be used to uncover genes that contribute to the risk for more common, multigenic diseases such as diabetes or cancer.


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Contact: NHLBI Communications Office
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Source:Eurekalert

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