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NPJ Genom Med. 2016 Jan 13;1:15007. doi: 10.1038/npjgenmed.2015.7. eCollection 2016.

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, .

NPJ genomic medicine

Greyson P Twist, Andrea Gaedigk, Neil A Miller, Emily G Farrow, Laurel K Willig, Darrell L Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson, Julie A Cakici, Amanda K Riffel, J Steven Leeder, Deendayal Dinakarpandian, Stephen F Kingsmore

Affiliations

  1. Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO, USA.
  2. Department of Computer Science and Electrical Engineering, School of Computing and Engineering, University of Missouri-Kansas City, Kansas City, MO, USA.
  3. Division of Clinical Pharmacology & Therapeutic Innovation, Children's Mercy-Kansas City, Kansas City, MO, USA.
  4. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, USA.
  5. School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA.
  6. Deparment of Pediatrics and Clinical Translational Science Center, University of New Mexico Health Science Center, Albuquerque, NM, USA.
  7. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA.

PMID: 29263805 PMCID: PMC5685293 DOI: 10.1038/npjgenmed.2015.7

Abstract

An important component of precision medicine-the use of whole-genome sequencing (WGS) to guide lifelong healthcare-is electronic decision support to inform drug choice and dosing. To achieve this, automated identification of genetic variation in genes involved in drug absorption, distribution, metabolism, excretion and response (ADMER) is required.

Conflict of interest statement

The authors declare no conflict of interest.

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