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

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.

Pubmed ID: 23975140


  • Ramu A
  • Noordam MJ
  • Schwartz RS
  • Wuster A
  • Hurles ME
  • Cartwright RA
  • Conrad DF


Nature methods

Publication Data

October 30, 2013

Associated Grants

  • Agency: NICHD NIH HHS, Id: L50 HD070397
  • Agency: NHGRI NIH HHS, Id: R01 HG007178
  • Agency: NIMH NIH HHS, Id: R01 MH100027
  • Agency: Wellcome Trust, Id: WT098051

Mesh Terms

  • Exome
  • Gene Deletion
  • Genome, Human
  • Human Genome Project
  • Humans
  • INDEL Mutation
  • Likelihood Functions
  • Models, Genetic
  • Mutagenesis, Insertional
  • Point Mutation
  • Software