Expert Group Publishes Guidelines for Evaluating Pathogenicity of Sequence Variants | GenomeWeb

NEW YORK (GenomeWeb) − A group of mostly US-based genomics and clinical sequencing experts has put forward a set of guidelines for determining whether a rare sequence variant is causally linked to a disease.

The guidelines, which they plan to follow up with more specific ones in the future, were published in Nature last week. They resulted from a workshop held by the National Human Genome Research Institute in September 2012.

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