DeNovoGear: de novo indel and point mutation discovery and phasing.

ABSTRACT: 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.

SUBMITTER: Ramu A 

PROVIDER: S-EPMC4003501 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature