BioDiscovery - Algorithms Software for CNV and AOH Detection

BioDiscovery has developed two algorithms for the detection of CNV and AOH events from NGS using its decades-long expertise in the area. One algorithm, the “Self-reference” algorithm, can be used for all WGS data regardless of sequencing depth. The second is the “Multi-Scale Reference” (MSR) algorithm that is applicable to all NGS data (WGS, WES, and Gene panels). The MSR algorithm is able to create “virtual” bins with sizes proportional to the expected number of reads offering high-resolution detection of events in areas of interest (e.g. exons) while also providing a nice genome-wide backbone.