Monday, September 30, 2013

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

One more too try.
Fwd: please follow footer link

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

Nature Methods 10, 985 (2013).
doi:10.1038/nmeth.2611

Authors: Avinash Ramu, Michiel J Noordam, Rachel S Schwartz, Arthur Wuster, Matthew E Hurles, Reed A Cartwright & Donald F Conrad

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.

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(Via Nature Methods current.)