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DeNovoGear: de novo indel and point mutation discovery and phasing

2013; Nature Portfolio; Volume: 10; Issue: 10 Linguagem: Inglês

10.1038/nmeth.2611

1548-7105

Avinash Ramu, Michiel J. Noordam, Rachel S. Schwartz, Arthur Wüster, Matthew E. Hurles, Reed A. Cartwright, Donald F. Conrad,

Genomic variations and chromosomal abnormalities

The DeNovoGear software detects de novo point mutations and indels with high specificity in familial and somatic tissue sequence data. 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.