Fine-scale structural variation of the human genome
Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We...
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| Veröffentlicht in: | Nature genetics 2005-07, Vol.37 (7), p.727-732 |
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| container_title | Nature genetics |
| container_volume | 37 |
| creator | Eichler, Evan E Tuzun, Eray Sharp, Andrew J Bailey, Jeffrey A Kaul, Rajinder Morrison, V Anne Pertz, Lisa M Haugen, Eric Hayden, Hillary Albertson, Donna Pinkel, Daniel Olson, Maynard V |
| description | Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine-scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease. |
| doi_str_mv | 10.1038/ng1562 |
| format | Article |
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We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine-scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1562</identifier><identifier>PMID: 15895083</identifier><language>eng</language><publisher>United States: Nature Publishing Group</publisher><subject>Base Pairing ; Cell Line, Tumor ; Computational Biology ; Disease susceptibility ; Genetic variation ; Genome, Human ; Genomic Instability ; Human genome ; Humans ; Identification and classification ; Mutation ; Oligonucleotide Array Sequence Analysis ; Physiological aspects ; Polymorphism, Genetic ; Reference Values ; Sequence Analysis, DNA</subject><ispartof>Nature genetics, 2005-07, Vol.37 (7), p.727-732</ispartof><rights>COPYRIGHT 2005 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jul 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c528t-6c0f0e240adfd7de0375e40ea6b42efc804aa18752d187186929fc796ee86c343</citedby><cites>FETCH-LOGICAL-c528t-6c0f0e240adfd7de0375e40ea6b42efc804aa18752d187186929fc796ee86c343</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,2731,27933,27934</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15895083$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Eichler, Evan E</creatorcontrib><creatorcontrib>Tuzun, Eray</creatorcontrib><creatorcontrib>Sharp, Andrew J</creatorcontrib><creatorcontrib>Bailey, Jeffrey A</creatorcontrib><creatorcontrib>Kaul, Rajinder</creatorcontrib><creatorcontrib>Morrison, V Anne</creatorcontrib><creatorcontrib>Pertz, Lisa M</creatorcontrib><creatorcontrib>Haugen, Eric</creatorcontrib><creatorcontrib>Hayden, Hillary</creatorcontrib><creatorcontrib>Albertson, Donna</creatorcontrib><creatorcontrib>Pinkel, Daniel</creatorcontrib><creatorcontrib>Olson, Maynard V</creatorcontrib><title>Fine-scale structural variation of the human genome</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><description>Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. 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| ispartof | Nature genetics, 2005-07, Vol.37 (7), p.727-732 |
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| subjects | Base Pairing Cell Line, Tumor Computational Biology Disease susceptibility Genetic variation Genome, Human Genomic Instability Human genome Humans Identification and classification Mutation Oligonucleotide Array Sequence Analysis Physiological aspects Polymorphism, Genetic Reference Values Sequence Analysis, DNA |
| title | Fine-scale structural variation of the human genome |
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