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Genetic ancestral patterns in<i>CYP2D6</i>alleles: structural variants, rare variants, and clinical associations in 479,144 UK Biobank genomes

2024-07-24

Abstract excerpt

Cytochrome P450 2D6 ( CYP2D6 ) is involved in metabolising over 20% of clinical drugs, yet its genetic variation across ancestries is underexplored in large-scale whole-genome sequencing (WGS) datasets. We analysed WGS data from 479,144 UK Biobank participants, identifying 95 distinct CYP2D6 star alleles across five biogeographic groups. Of these, 48 alleles had currently unknown effects. These alleles were more p...

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Literature Corpus work
8ca1d2d7-b551-5d98-9fac-45997d49f518
DOI
10.1101/2024.07.23.24310892
Open publication

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Genetic ancestral patterns in<i>CYP2D6</i>alleles: structural variants, rare variants, and clinical associations in 479,144 UK Biobank genomesDOI 10.1101/2024.07.23.24310892
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