This 10-minute tutorial session will cover how to detect and analyze uniparental disomy (UPD) events from either SNP arrays or NGS data using the newest UPD tool available in NxClinical.
Learn more about this modern CMA from Illumina and its applicability for prenatal, postnatal, reproductive, and cancer genetics in this 30-minute webinar presented by Dan Saul, Customer Success Manager at BioDiscovery.
In this 30-minute webinar, presented by Sam Dougaparsad, learn how NxClinical seamlessly uncovers compound heterozygous aberrations from any array or NGS platform.
This 14-minute session, hosted by Sam Dougaparsad, Customer Success Manager, will focus on inheritance analysis and will cover the parent of origin column for SNP arrays as well as how to use inheritance pattern filtering in both CNV and NGS data.
This session is intended to give a “typical” end-to-end case review process for CNV/AOH/Seq Var data. One example shows a combination of array and NGS where there is only pathogenic Seq var data as well as a potential combination of Seq Var and CNV/AOH.