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Article

Computational variant predictors for pharmacogenomics: from evaluation of single alleles to assessment of adverse drug reactions to antidepressants.

The pharmacogenomics journal - 9 Mar 2026

Hajto Jacek, Piechota Marcin, Krätschmer Ilse, Konowalska Paula, Boyle Gabriel E, Fowler Douglas M, Borczyk Malgorzata, Korostynski Michal

Abstract excerpt

Currently, pharmacogenetics relies on partially annotated star alleles, leaving novel variants and complex haplotypes uninterpretable. Computational scoring frameworks could overcome these limitations. Here, we comprehensively evaluated the ability of existing (CADD, FATHMM-XF, PROVEAN, MutationAssessor, SIFT, PhyloP100, APF, APF2) and novel (PharmGScore and PharmMLScore) variant effect predictors to assess...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cytochrome P-450 CYP2C19

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Share to Drug-Related Side Effects and Adverse Reactions

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Source

Open in PubMed Open full text

Identifiers

PMID: 41803106
DOI: 10.1038/s41397-026-00399-0
PMCID: PMC12971486

Genes

CYP2C19
CYP2C9
TPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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