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Nat Methods. 2013 Oct;10(10):985-7. doi: 10.1038/nmeth.2611. Epub 2013 Aug 25.

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

Author information

1
1] Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA. [2].

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.

PMID:
23975140
PMCID:
PMC4003501
DOI:
10.1038/nmeth.2611
[Indexed for MEDLINE]
Free PMC Article

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