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Article

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016

Lee Elizabeth M J, Xu Karen, Mosbrook Emma, Links Amanda, Guzman Jessica, Adams David R, Flynn Elise, Valkanas Elise, Toro Camillo, Tifft Cynthia J, Boerkoel Cornelius F, Gahl William A, Sincan Murat

Abstract excerpt

PURPOSE: Using single-nucleotide polymorphism (SNP) chip and exome sequence data from individuals participating in the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP), we evaluated the number and therapeutic informativeness of incidental pharmacogenetic variants. METHODS: Pharmacogenomics Knowledgebase (PharmGKB) annotated sequence variants were identified in 1,101 individuals. Medication...

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Identifiers

PMID: 27253732
DOI: 10.1038/gim.2016.47
PMCID: PMC5133159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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