System architecture of Genovar. Genovar mainly takes comparative genomic hybridization array (aCGH) and binary sequence alignment/map (BAM) file as mandatory inputs for copy number variation (CNV) and next generation sequencing (NGS) analysis. Optional inputs include probe-gene mapping information and reference sequence (UCSC fastA format). Using two major modules (aCGH and NGS), Genovar performs analyzing tasks such as known variation reporting, graphical visual inspecting and variation detecting.
Jung et al. BMC Bioinformatics 2012 13(Suppl 7):S12 doi:10.1186/1471-2105-13-S7-S12