This webinar is geared towards those performing genomic variation analysis and interpretation in a cytogenomics lab.
Dr. Soheil Shams
SNP microarrays are commonly used to detect both copy number alterations as well as Absence of Heterozygosity (AOH), also referred to as Runs of Homozygosity (ROH). Unlike copy number events, it is often clinically challenging to interpret such regions as often blocks of homozygous regions are scattered across most “normal” genomes. In this presentation, we will demonstrate some of the interactive tools available in the NxClinical software that can be used to quickly prioritize genes that might be related to the phenotype associated with the sample. In particular, we will demonstrate how regions containing genes known to be recessive and associated with the given phenotype can be quickly identified in a sample and how regions of homozygosity in one sample compare to other samples in the database.