title: Chapter 6: Structural variation and medical genomics.
abstract: 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.
authors.affiliation: Department of Computer Science and Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America. braphael@brown.edu
authors.forename: Benjamin J
authors.initials: BJ
authors.lastname: Raphael
mesh_terms: D015894:Genome, Human; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis