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Expanding biobank pharmacogenomics through machine learning calls of structural variation.

Genetics - 9 Jul 2025

Vanderwerff Brett, Pasternak Amy L, Fritsche Lars G, Bertucci-Richter Emily, Patil Snehal, Boehnke Michael, Zhou Xiang, Zöllner Sebastian, Hertz Daniel L, Zawistowski Matthew

Abstract excerpt

Biobanks linking genetic data with clinical health records provide exciting opportunities for pharmacogenomic (PGx) research on genetic variation and drug response. Designed as central and multiuse resources, biobanks can facilitate diverse PGx research efforts, including the study of drug efficacy and adverse effects. Specialized PGx alleles and phenotypes are critical for such studies and can be conveniently...

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Identifiers

PMID: 40344017
DOI: 10.1093/genetics/iyaf088
PMCID: PMC13031175

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