Chapter 6: Structural variation and medical genomics.
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 rece...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2012-01-01
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| Series: | PLoS Computational Biology |
| Online Access: | https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002821&type=printable |
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| _version_ | 1849720308464877568 |
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| author | Benjamin J Raphael |
| author_facet | Benjamin J Raphael |
| author_sort | Benjamin J Raphael |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-686aaa06723d4b62b9c1938ad63ad14c |
| institution | DOAJ |
| issn | 1553-734X 1553-7358 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Computational Biology |
| spelling | doaj-art-686aaa06723d4b62b9c1938ad63ad14c2025-08-20T03:11:57ZengPublic Library of Science (PLoS)PLoS Computational Biology1553-734X1553-73582012-01-01812e100282110.1371/journal.pcbi.1002821Chapter 6: Structural variation and medical genomics.Benjamin J RaphaelDifferences 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.https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002821&type=printable |
| spellingShingle | Benjamin J Raphael Chapter 6: Structural variation and medical genomics. PLoS Computational Biology |
| title | Chapter 6: Structural variation and medical genomics. |
| title_full | Chapter 6: Structural variation and medical genomics. |
| title_fullStr | Chapter 6: Structural variation and medical genomics. |
| title_full_unstemmed | Chapter 6: Structural variation and medical genomics. |
| title_short | Chapter 6: Structural variation and medical genomics. |
| title_sort | chapter 6 structural variation and medical genomics |
| url | https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002821&type=printable |
| work_keys_str_mv | AT benjaminjraphael chapter6structuralvariationandmedicalgenomics |