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Article

A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic data.

Journal of human genetics - 1 Mar 2026

Nguyen Thien Khac, Pham Cuong Tri, Hoang Tham, Vo Nam S, Phung Thanh Huong

Abstract excerpt

Next-generation sequencing (NGS) offers a fast, cost-effective, and scalable solution for pharmacogenomic allele assignment but faces challenges in accurately identifying variants and haplotypes in regions with high sequence similarity. This study aimed to evaluate the performance of three NGS-compatible genotyping tools - PyPGx, Stargazer, and Aldy - for CYP2D6 annotation and investigated the CYP2D6 genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41162631
DOI: 10.1038/s10038-025-01428-9

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

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