Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

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, metab...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Twist, Greyson P, Gaedigk, Andrea, Miller, Neil A, Farrow, Emily G, Willig, Laurel K, Dinwiddie, Darrell L, Petrikin, Josh E, Soden, Sarah E, Herd, Suzanne, Gibson, Margaret, Cakici, Julie A, Riffel, Amanda K, Leeder, J Steven, Dinakarpandian, Deendayal, Kingsmore, Stephen F
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685293/
https://ncbi.nlm.nih.gov/pubmed/29263805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2015.7
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