eMERGE PGx Study Highlights Challenges in Determining Pathogenicity, Returning Secondary NGS Results | GenomeWeb

NEW YORK (GenomeWeb) – Using data from the Pharmacogenomics arm of the National Human Genome Research Institute's Electronic Medical Records and Genomics (eMERGE) project, a new study has illustrated some of the pitfalls of analyzing and reporting rare disease variants in an unselected healthy population — challenges that will be important to overcome if secondary findings are to be returned to sequencing subjects more widely in the future.

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