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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.

SUBMITTER: Raphael BJ

PROVIDER: S-EPMC3531322 | biostudies-other | 2012

REPOSITORIES: biostudies-other

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Chapter 6: Structural variation and medical genomics.

Raphael Benjamin J BJ

PLoS computational biology 20121227 12

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 o ...[more]

PMID: 23300412

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