DeNovoGear: de novo indel and point mutation discovery and phasing

We present the 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...

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Bibliografiske detaljer
Main Authors: Ramu, Avinash, Noordam, Michiel J., Schwartz, Rachel S., Wuster, Arthur, Hurles, Matthew E., Cartwright, Reed A., Conrad, Donald F.
Format: Artigo
Sprog:Inglês
Udgivet: 2013
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4003501/
https://ncbi.nlm.nih.gov/pubmed/23975140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nmeth.2611
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