Friday, November 2, 2012

Fwd: PriVar: a toolkit for prioritizing SNVs and indels from next generationsequencing data

Yet another prioritization tool.
Fwd: please follow footer link
PriVar: a toolkit for prioritizing SNVs and indels from next generationsequencing data:

Summary: Next generation sequencing has become a valuable tool for detecting mutations involved in Mendelian diseases. However, it is a challenge to identify the small subset of functionally important mutations from tens of thousands of rare variants in a whole exome/genome. For such a purpose, we developed a toolkit called PriVar, a systematic prioritization pipeline that takes into consideration of calling quality of the variants, their predicted functional impact, known connection of the gene to the disease and the number of mutations in a gene, and inference from linkage analysis.

Availability: Executable jar package is available at http://paed.hku.hk/uploadarea/yangwl/html/software.html



(Original Post:
Bioinformatics - Advance Access.)