Title

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

Creator(s)

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

Document Type

Article

Publication Date

1-1-2016

Identifier

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.

Journal Title

NPJ Genom Med

Volume

1

First Page

15007

Last Page

15007

MeSH Keywords

Cytochrome P-450 CYP2D6; Phenotype; Whole Genome Sequencing; Precision Medicine

Keywords

Phenotype; Whole Genome Sequencing

Comments

Erratum in

• Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences. [NPJ Genom Med. 2017]

Recommended Citation

Twist, G. P., Gaedigk, A., Miller, N. A., Farrow, E. G., Willig, L. K., Dinwiddie, D. L., Petrikin, J. E., Soden, S. E., Herd, S., Gibson, M., Cakici, J. A., Riffel, A. K., Leeder, J., Dinakarpandian, D., Kingsmore, S. F. Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, NPJ Genom Med 1, 15007-15007 (2016).