DeNovoGear: de novo indel and point mutation discovery and phasing
Copyright policy )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.
- Washington University in St. Louis United States
- Wellcome Sanger Institute United Kingdom
- Arizona State University United States
- University of Mary United States
Likelihood Functions, Models, Genetic, Genome, Human, Mutagenesis, Insertional, INDEL Mutation, Human Genome Project, Humans, Point Mutation, Exome, Gene Deletion, Software
Likelihood Functions, Models, Genetic, Genome, Human, Mutagenesis, Insertional, INDEL Mutation, Human Genome Project, Humans, Point Mutation, Exome, Gene Deletion, Software
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