DeNovoGear: de novo indel and point mutation discovery and phasing.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23975140.
- Also identified by DOI 10.1038/nmeth.2611 and PMC identifier 4003501.
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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.
Medical subject headings
- Genome, Human
- INDEL Mutation
- Models, Genetic
- Point Mutation
- Software