MitoSomatic: a tool for accurate identification of mitochondrial DNA somatic mutations without paired controls.

ABSTRACT: Mitochondrial DNA (mtDNA) somatic mutations play important roles in the initiation and progression of cancer. Although next-generation sequencing (NGS) of paired tumor and control samples has become a common practice to identify tumor-specific mtDNA mutations, the unique nature of mtDNA and NGS-associated sequencing bias could cause false-positive/-negative somatic mutation calling. Additionally, there are clinical scenarios where matched control tissues are unavailable for comparison. Therefore, a novel approach for accurately identifying somatic mtDNA variants is greatly needed, particularly in the absence of matched controls. In this study, the ground truth mtDNA variants orthogonally validated by triple-paired tumor, adjacent nontumor, and blood samples were used to develop mitoSomatic

SUBMITTER: Guo W 

PROVIDER: S-EPMC10158781 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature