Enhancing Variant Calling in Whole Exome Sequencing (WES) Data Using Population-Matched Reference Genomes
Shuming Guo, Zhuo Huang, Yanming Zhang, Yukun He, Xiangju Chen, Wenjuan Wang, L.M. Li, Yu Kang, Zhancheng Gao, Jun Yu, Zhenglin Du, Yanan Chu
This study evaluates the impact of population-specific reference genomes on variant calling in WES data from Chinese tumor samples, finding improved accuracy with the YAO reference.
Genomics Proteomics & Bioinformatics · Oct 1, 2024Peer-reviewedGenomics