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Article

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2017

Ng David, Hong Celine S, Singh Larry N, Johnston Jennifer J, Mullikin James C, Biesecker Leslie G

Abstract excerpt

PURPOSE: The aim of the study was to assess exome data for preemptive pharmacogenetic screening for 203 clinically relevant pharmacogenetic variant positions from the Pharmacogenomics Knowledgebase and Clinical Pharmacogenetics Implementation Consortium and identify copy-number variants (CNVs) in CYP2D6. METHODS: We examined the coverage and genotype quality of 203 pharmacogenetic variant positions in 973 exomes...

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Identifiers

PMID: 27537706
DOI: 10.1038/gim.2016.105
PMCID: PMC5316383

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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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