
A machine-learning approach to identify copy number variants (CNVs) from sequencing data. The umbrella represents a binary machine-learning classifier that allows investigators to prioritize high-confidence calls that might be relevant for testing CNVs for clinical relevance. (Cover artwork by Ella Maru Studio, https://www.scientific-illustrations.com/, and conceptually inspired by Vijay Kumar Pounraja. [For details, see Pounraja et al., pp. 1134–1143.])