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Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.

Clinical and translational science - 1 Jan 2026

Allen Josiah D, Duong Benjamin Q, Vogt Jordan, Arn Pamela

Abstract excerpt

Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross-referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with genomic databases and drug labeling to identify gene-phenotype pairs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41527333
DOI: 10.1111/cts.70464
PMCID: PMC12796505

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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