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项目编号 PRJCA009298
项目标题 mitoSomatic: a tool for accurate identification of mitochondrial DNA somatic mutations without paired controls
涉及领域 Medical
数据类型 Variation
物种名称 Homo sapiens
描述信息 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 together with NGS-associated sequencing bias could cause false positive/negative somatic mutation calling.Additionally, there are clinical scenarios where matched control tissues are not available for comparison.Therefore, novel approach for accurate identification of somatic mtDNA mutations is greatly needed, particularly in the absence of matched controls. In this study, the ground truth mtDNA variants orthogonally validated by triple-paired tumor, para-tumor, and blood samples were used to develop mitoSomatic, a random-forest-based machine learning tool.
样品范围 Multiisolate
发布日期 2022-04-24
项目资金来源
机构 项目类型 授权项目ID 授权项目名称
National Natural Science Foundation of China (NSFC) Key Program 81830070
National Natural Science Foundation of China (NSFC) Young Scientists Fund 82102512
National Natural Science Foundation of China (NSFC) General Program 32070690
Autonomous Project of State Key Laboratory of Cancer Biology, China Autonomous Project CBSKL2019ZZ27
提交者 wenjie guo (gwj2002020356@163.com)
提交单位 The Fourth Military Medical University
提交日期 2022-04-24

项目包含数据信息

资源名称 描述
BioSample (597)  show -