A tool for indentification of copy number variation (CNV) specifically in next-generation sequencing (NGS) data. CoNVaDING algorithm contains quality control metrics and can be used for clinical diagnostics. Requires: samtools, Perl, and the Statistics::Normality package for perl.
Biology; genetics
Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B "CoNVaDING: Single Exon Variation Detection in Targeted NGS Data." Hum Mutat. 2016 May;37(5):457-64. https://doi.org/10.1002/humu.22969
PMID: 26864275
If you find errors, please report here.
SECTIONS
TutorialsFind thousands of Bioinformatics and Life Science software tools and databases in the newly launched
Ads