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

Nature methods | Oct 30, 2013

http://www.ncbi.nlm.nih.gov/pubmed/23975140

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 RIS Download

Mesh terms: Exome | Gene Deletion | Genome, Human | Human Genome Project | Humans | INDEL Mutation | Likelihood Functions | Models, Genetic | Mutagenesis, Insertional | Point Mutation | Software