Article
Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples.
Genome biology - 9 Nov 2022
Xiao Chunlin, Chen Zhong, Chen Wanqiu, Padilla Cory, Colgan Michael, Wu Wenjun, Fang Li-Tai, Liu Tiantian, Yang Yibin, Schneider Valerie, Wang Charles, Xiao Wenming
Abstract excerpt
BACKGROUND: The use of a personalized haplotype-specific genome assembly, rather than an unrelated, mosaic genome like GRCh38, as a reference for detecting the full spectrum of somatic events from cancers has long been advocated but has never been explored in tumor-normal paired samples. Here, we provide the first demonstrated use of de novo assembled personalized genome as a reference for cancer mutation...
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