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Complete pharmacogenomic profile from exome sequencing
2026-01-19
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
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 limitations of ES for pharmacogenomics, including low coverage and structural complexity a...
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