
Cover Copy number variants (CNVs) among individuals have been linked to multiple diseases, including cancer, autism, schizophrenia, and ADHD. High-throughput sequencing (HTS) technologies have allowed whole-genome sequencing of human genomes, enabling the discovery of CNVs using either depth-of-coverage or paired-end mapping information, here visualized using the Savant Genome Browser (http://compbio.cs.toronto.edu/savant). In this issue, both of these indicators are unified into a graph-based probabilistic framework, leading to a novel method for CNV discovery from HTS data. (Cover Illustration by Marc Fiume. [For details, see Medvedev et al., pp. 1613–1622.])