Human Disease


Human Disease


Paper Link:




Copy number alteration (CNA) is one of the main genetic structural variations of cancer genomes. Detecting CNAs in genetic exome region is efficient and cost-effective in identifying cancer associated genes. Many tools have been developed accordingly. And yet these tools lack of reliability as a consequence of high false negative rate, which is intrinsically caused by genome exonic bias. To deliver a more reliable CNA detection, here, we report COMXCNA, a comprehensive pipeline that allows flexible integration of multiple CNA-calling methods and systematic annotation of CNAs in analyzing WES data. Just by one command, COMXCNA could generate CNAs detection result by up to four CNA detecting tools, and provides comprehensive annotation analysis.

Cover of the Issue