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Article

An efficient genotyper and star-allele caller for pharmacogenomics.

Genome research - 1 Jan 2023

Hari Ananth, Zhou Qinghui, Gonzaludo Nina, Harting John, Scott Stuart A, Qin Xiang, Scherer Steve, Sahinalp S Cenk, Numanagić Ibrahim

Abstract excerpt

High-throughput sequencing provides sufficient means for determining genotypes of clinically important pharmacogenes that can be used to tailor medical decisions to individual patients. However, pharmacogene genotyping, also known as star-allele calling, is a challenging problem that requires accurate copy number calling, structural variation identification, variant calling, and phasing within each pharmacogene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36657977
DOI: 10.1101/gr.277075.122
PMCID: PMC9977157

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