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Reduction of next-generation sequencing files for efficient pharmacogenotype extraction.

Pharmacogenomics - 1 Jan 2026

Kaur Hargoon N, Ly Reynold C, Bray Steven M, Ratcliff Ryan, Numanagic Ibrahim, Skaar Todd C, Shugg Tyler

Abstract excerpt

OBJECTIVES: The most comprehensive computational pharmacogenotype extraction methods utilize Binary Alignment/Map (BAM) files, which require intensive storage resources. The pharmacogenotyping tool Aldy, which has been validated using clinical whole exome (ES) and whole genome sequencing (GS), can also extract genotypes from targeted DNA sequencing. Our objectives were to (1) assess Aldy's genotype extraction...

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PMID: 42253037
DOI: 10.1080/14622416.2026.2685208
PMCID: PMC13374767

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