Dr. Sean Davis, Molecular Genetics Section, NCI
While copy number estimation is not often the primary goal of either exome or whole-genome sequencing, it does augment the view of the genome provided by SNVs and small insertions and deletions. Particularly in cancer, where disordered genomes are common, the copy number layer adds biological context that is important in understanding tumor biology. I will discuss some relatively simple approaches for copy number estimation from sequencing data, give some examples, and show how to load these data into BioDiscovery’s Nexus Copy Number software. From there, the investigator is free to visually inspect and perform the higher-level analyses typical of copy number data.