Title |
Chapter 6: Structural Variation and Medical Genomics
|
---|---|
Published in |
PLoS Computational Biology, December 2012
|
DOI | 10.1371/journal.pcbi.1002821 |
Pubmed ID | |
Authors |
Benjamin J. Raphael |
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. |
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Germany | 1 | 14% |
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Unknown | 1 | 14% |
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Mendeley readers
Geographical breakdown
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Germany | 2 | <1% |
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Researcher | 58 | 25% |
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Unknown | 20 | 9% |
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Engineering | 6 | 3% |
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