BioDiscovery - Whole Exome Sequencing Tools

Getting CNV calls from Whole Exome Sequencing has been one of the most challenging efforts in the community. There have been numerous algorithms proposed but they suffer either from poor sensitivity or too many false-positive calls. The MSR algorithm has been able to offer the best balance of these competing measures, detecting small true-positives without generating many false-positives. The image below shows a small 12Kb deletion overlapping part of MECP2 gene resulting in only 2 virtual probes indicating a small copy number loss. At the same time, with such sensitivity, only four other CNVs were detected that passed the basic filtering stage demonstrating a very low false-positive rate.