期刊
NATURE METHODS
卷 10, 期 10, 页码 985-+出版社
NATURE PORTFOLIO
DOI: 10.1038/nmeth.2611
关键词
-
资金
- Wellcome Trust [WT098051]
We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error modeling to reduce the false positive rate of mutation discovery in exome analysis and fragment information to identify the parental origin of germ-line mutations. We used DeNovoGear on human whole-genome sequencing data to produce a set of predicted de novo insertion and/or deletion (indel) mutations with a 95% validation rate.
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