Chapter 6: Structural variation and medical genomics.

1. PLoS Comput Biol. 2012;8(12):e1002821. doi: 10.1371/journal.pcbi.1002821. Epub 2012 Dec 27. Chapter 6: Structural variation and medical genomics. Raphael BJ(1). Author information: (1)Department of Computer Science and Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America. braphael@brown.edu Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have received considerable attention in the past several years as they are a previously under appreciated source of variation in human genomes. Much of this recent attention is the result of the availability of higher-resolution technologies for measuring these variants, including both microarray-based techniques, and more recently, high-throughput DNA sequencing. We describe the genomic technologies and computational techniques currently used to measure SVs, focusing on applications in human and cancer genomics. DOI: 10.1371/journal.pcbi.1002821 PMCID: PMC3531322 PMID: 23300412 [Indexed for MEDLINE] Conflict of interest statement: The author has declared that no competing interests exist.