Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

It is now affordable to order clinically interpreted whole-genome sequence reports from clinical laboratories. One major component of these reports is derived from the knowledge base of previously identified pathogenic variants, including research articles, locus-specific, and other databases. While...

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Bibliographic Details
Main Authors: Cassa, Christopher A., Tong, Mark Y., Jordan, Daniel M.
Other Authors: Massachusetts Institute of Technology. Center for Transportation & Logistics
Format: Article
Language:en_US
Published: Wiley Blackwell 2014
Online Access:http://hdl.handle.net/1721.1/89413