DeNovoGear: de novo indel and point mutation discovery and phasing.
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ABSTRACT:
SUBMITTER: Ramu A
PROVIDER: S-EPMC4003501 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Publications
DeNovoGear: de novo indel and point mutation discovery and phasing.
Ramu Avinash A Noordam Michiel J MJ Schwartz Rachel S RS Wuster Arthur A Hurles Matthew E ME Cartwright Reed A RA Conrad Donald F DF
Nature methods 20130825 10
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. ...[more]
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