Article

Complete pharmacogenomic profile from exome sequencing

2026-01-19

Abstract excerpt

Exome sequencing (ES) is a cornerstone of clinical genetic diagnosis, yet its application in pharmacogenomics remains limited. While some pharmacogenetic variants are detectable by ES, clinically relevant loci such as CYP2D6 , UGT1A1 , and HLA remain challenging. We present a robust, comprehensive method to derive a complete pharmacogenomic profile directly from standard ES data. Our method addresses primary lim...

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Literature Corpus work: da9a295c-d3a0-5197-802b-358ef5cc33ca
DOI: 10.64898/2026.01.13.26343772

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