4.8 Article

DeNovoGear: de novo indel and point mutation discovery and phasing

Journal

NATURE METHODS
Volume 10, Issue 10, Pages 985-+

Publisher

NATURE PORTFOLIO
DOI: 10.1038/nmeth.2611

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Funding

  1. Wellcome Trust [WT098051]

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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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