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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Detaylı Bibliyografya
Yayımlandı:NPJ Genom Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
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Article
Online Erişim: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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