ExomeCNVTest 0.51 – Identify Disease-associated CNVs

ExomeCNVTest 0.51

:: DESCRIPTION

ExomeCNVTest (ExoCNVTest) is an exome sequencing analysis pipeline to identify disease-associated CNVs and to generate absolute copy number genotypes at putatively associated loci.

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::DEVELOPER

Dr Lachlan J Coin

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows/ MacOsX
  • Java
  • R package

:: DOWNLOAD

  ExomeCNVTest

:: MORE INFORMATION

Citation

Bioinformatics. 2012 Sep 15;28(18):i370-i374. doi: 10.1093/bioinformatics/bts379.
An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis.
Coin LJ, Cao D, Ren J, Zuo X, Sun L, Yang S, Zhang X, Cui Y, Li Y, Jin X, Wang J.