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Updated: Jun 11, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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通过使用与人口匹配的参考基因组来增强全外体测序数据中的变异调用

Shuming Guo1, Zhuo Huang2,3,4, Yanming Zhang1

  • 1Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China.

Genomics, proteomics & bioinformatics
|October 8, 2024
PubMed
概括

使用新的端粒对端粒基因组 (如T2T-YAO) 进行全外因子测序 (WES) 提高了中国人群中变异调用准确度. 这种个性化的方法通过减少假阳性来提高癌症诊断和全基因组关联研究 (GWAS).

关键词:
种群特定的基因组参考基因组.T2T-YAOO 在线阅读瘤是一个瘤.变体调用 变体调用整体外基因组测序的测序

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