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Applying Multiplex Assays to Understand Variation in Pharmacogenes
Author(s) -
Chiasson Melissa,
Dunham Maitreya J.,
Rettie Allan E.,
Fowler Douglas M.
Publication year - 2019
Publication title -
clinical pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 188
eISSN - 1532-6535
pISSN - 0009-9236
DOI - 10.1002/cpt.1468
Subject(s) - multiplex , biology , variation (astronomy) , genetics , computational biology , copy number variation , evolutionary biology , genome , gene , physics , astrophysics
Genome sequencing has enabled the detection of unprecedented numbers of new pharmacogene variants. However, interpreting how these variants affect pharmacogene biology and ultimately drug response is difficult. Multiplexed assays for variant effects (MAVEs) leverage high throughput DNA sequencing to assess the functional consequences of thousands of variants simultaneously. We discuss the utility of largescale functional data in pharmacogene variant interpretation and suggest that implementing MAVEs could empower pharmacogenetics and improve patient care.

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