Introduction

CNVnator is a tool used for copy number variation (CNV) discovery and genotyping from read-depth (RD) analysis of personal genome sequencing in the field of gene sequencing. CNVnator is based on combining the established mean-shift approach with additional refinements (multiple-bandwidth partitioning and GC correction) to broaden the range of discovered CNVs. Furthermore, CNVnator is complementary in a straightforward way to split-read and read-pair approaches: It misses CNVs created by retrotransposable elements, but more than half of the validated CNVs that it identifies are not detected by split-read or read-pair.

For more information about CNVnator, visit the official CNVnator website.

Programming language: C++

Brief description: a tool used for copy number variation (CNV) discovery and genotyping from read-depth (RD) analysis of personal genome sequencing

Open source license: MIT