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Article

Precise identification of somatic and germline variants in the absence of matched normal samples.

Briefings in bioinformatics - 22 Nov 2024

Li Hui, Meng Lu, Wang Hongke, Cui Liang, Sheng Heyu, Zhao Peiyan, Hong Shuo, Du Xinhua, Yan Shi, Xing Yun, Feng Shicheng, Zhang Yan, Fang Huan, Bai Jing, Liu Yan, Lan Shaowei, Liu Tao, Guan Yanfang, Xia Xuefeng, Yi Xin, Cheng Ying

Abstract excerpt

Somatic variants play a crucial role in the occurrence and progression of cancer. However, in the absence of matched normal controls, distinguishing between germline and somatic variants becomes challenging in tumor samples. The existing tumor-only genomic analysis methods either suffer from limited performance or insufficient interpretability due to an excess of features. Therefore, there is an urgent need for...

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PMID: 39737564
DOI: 10.1093/bib/bbae677
PMCID: PMC11684894

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