Global variation in copy number in the human genome
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection)....
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| Veröffentlicht in: | Nature 2006-11, Vol.444 (7118), p.444-454 |
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| creator | Redon, Richard Ishikawa, Shumpei Fitch, Karen R. Feuk, Lars Perry, George H. Andrews, T. Daniel Fiegler, Heike Shapero, Michael H. Carson, Andrew R. Chen, Wenwei Cho, Eun Kyung Dallaire, Stephanie Freeman, Jennifer L. González, Juan R. Gratacòs, Mònica Huang, Jing Kalaitzopoulos, Dimitrios Komura, Daisuke MacDonald, Jeffrey R. Marshall, Christian R. Mei, Rui Montgomery, Lyndal Nishimura, Kunihiro Okamura, Kohji Shen, Fan Somerville, Martin J. Tchinda, Joelle Valsesia, Armand Woodwark, Cara Yang, Fengtang Zhang, Junjun Zerjal, Tatiana Zhang, Jane Armengol, Lluis Conrad, Donald F. Estivill, Xavier Tyler-Smith, Chris Carter, Nigel P. Aburatani, Hiroyuki Lee, Charles Jones, Keith W. Scherer, Stephen W. Hurles, Matthew E. |
| description | Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
Genomics:
vive les différences
Where to next after sequencing the human genome? We want to know how human genomes differ from each other. Last year the International HapMap Project published a map of single nucleotide changes, and now an international consortium has mapped even larger areas of differences, called copy number variants (CNVs). Each CNV involves at least 1,000 base-pair differences between individuals, and they have been linked to both benign and disease-causing changes in the genome. The new map is based on analysis of DNA from 270 individuals. Over 1,400 CNVs were found, covering 12% of the genome. This makes them far more prevalent than was thought, and suggests that unless analysed for directly, these differences could be missed by present strategies used to identify genes mutated in genetic diseases.
Last year the first map of single nucleotide changes was published; now an international consortium has mapped even larger areas of differences, called copy number variants. These variants are at least 1,000-base-pair differences between individual people, and have been linked to both benign and disease-causing changes in the human genome. |
| doi_str_mv | 10.1038/nature05329 |
| format | Article |
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Genomics:
vive les différences
Where to next after sequencing the human genome? We want to know how human genomes differ from each other. Last year the International HapMap Project published a map of single nucleotide changes, and now an international consortium has mapped even larger areas of differences, called copy number variants (CNVs). Each CNV involves at least 1,000 base-pair differences between individuals, and they have been linked to both benign and disease-causing changes in the genome. The new map is based on analysis of DNA from 270 individuals. Over 1,400 CNVs were found, covering 12% of the genome. This makes them far more prevalent than was thought, and suggests that unless analysed for directly, these differences could be missed by present strategies used to identify genes mutated in genetic diseases.
Last year the first map of single nucleotide changes was published; now an international consortium has mapped even larger areas of differences, called copy number variants. These variants are at least 1,000-base-pair differences between individual people, and have been linked to both benign and disease-causing changes in the human genome.</description><identifier>ISSN: 0028-0836</identifier><identifier>EISSN: 1476-4687</identifier><identifier>EISSN: 1476-4679</identifier><identifier>DOI: 10.1038/nature05329</identifier><identifier>PMID: 17122850</identifier><identifier>CODEN: NATUAS</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Biological and medical sciences ; Biological variation ; Chromosome Mapping ; Deoxyribonucleic acid ; DNA ; Fundamental and applied biological sciences. Psychology ; Gene Dosage ; Genes. Genome ; Genetic diversity ; Genetic resources ; Genetic Variation ; Genetics ; Genetics, Population ; Genome, Human ; Genomics ; Genomics - methods ; Genotype ; Genotype & phenotype ; Human genetics ; Humanities and Social Sciences ; Humans ; Hybridization ; Life Sciences ; Linkage Disequilibrium ; Molecular and cellular biology ; Molecular Diagnostic Techniques ; Molecular genetics ; multidisciplinary ; Oligonucleotide Array Sequence Analysis - methods ; Polymorphism, Single Nucleotide ; Science ; Science (multidisciplinary)</subject><ispartof>Nature, 2006-11, Vol.444 (7118), p.444-454</ispartof><rights>Springer Nature Limited 2006</rights><rights>2007 INIST-CNRS</rights><rights>COPYRIGHT 2006 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Nov 23, 2006</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c809t-8e4e842ebd9f69b2ac5149197dfb79e1a15f588c1a9cbac3fabdc101062cf3393</citedby><cites>FETCH-LOGICAL-c809t-8e4e842ebd9f69b2ac5149197dfb79e1a15f588c1a9cbac3fabdc101062cf3393</cites><orcidid>0000-0002-3573-2354 ; 0000-0001-7751-2280 ; 0000-0002-0666-5420</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/nature05329$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/nature05329$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,776,780,881,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18294283$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17122850$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-03378416$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Redon, Richard</creatorcontrib><creatorcontrib>Ishikawa, Shumpei</creatorcontrib><creatorcontrib>Fitch, Karen R.</creatorcontrib><creatorcontrib>Feuk, Lars</creatorcontrib><creatorcontrib>Perry, George H.</creatorcontrib><creatorcontrib>Andrews, T. Daniel</creatorcontrib><creatorcontrib>Fiegler, Heike</creatorcontrib><creatorcontrib>Shapero, Michael H.</creatorcontrib><creatorcontrib>Carson, Andrew R.</creatorcontrib><creatorcontrib>Chen, Wenwei</creatorcontrib><creatorcontrib>Cho, Eun Kyung</creatorcontrib><creatorcontrib>Dallaire, Stephanie</creatorcontrib><creatorcontrib>Freeman, Jennifer L.</creatorcontrib><creatorcontrib>González, Juan R.</creatorcontrib><creatorcontrib>Gratacòs, Mònica</creatorcontrib><creatorcontrib>Huang, Jing</creatorcontrib><creatorcontrib>Kalaitzopoulos, Dimitrios</creatorcontrib><creatorcontrib>Komura, Daisuke</creatorcontrib><creatorcontrib>MacDonald, Jeffrey R.</creatorcontrib><creatorcontrib>Marshall, Christian R.</creatorcontrib><creatorcontrib>Mei, Rui</creatorcontrib><creatorcontrib>Montgomery, Lyndal</creatorcontrib><creatorcontrib>Nishimura, Kunihiro</creatorcontrib><creatorcontrib>Okamura, Kohji</creatorcontrib><creatorcontrib>Shen, Fan</creatorcontrib><creatorcontrib>Somerville, Martin J.</creatorcontrib><creatorcontrib>Tchinda, Joelle</creatorcontrib><creatorcontrib>Valsesia, Armand</creatorcontrib><creatorcontrib>Woodwark, Cara</creatorcontrib><creatorcontrib>Yang, Fengtang</creatorcontrib><creatorcontrib>Zhang, Junjun</creatorcontrib><creatorcontrib>Zerjal, Tatiana</creatorcontrib><creatorcontrib>Zhang, Jane</creatorcontrib><creatorcontrib>Armengol, Lluis</creatorcontrib><creatorcontrib>Conrad, Donald F.</creatorcontrib><creatorcontrib>Estivill, Xavier</creatorcontrib><creatorcontrib>Tyler-Smith, Chris</creatorcontrib><creatorcontrib>Carter, Nigel P.</creatorcontrib><creatorcontrib>Aburatani, Hiroyuki</creatorcontrib><creatorcontrib>Lee, Charles</creatorcontrib><creatorcontrib>Jones, Keith W.</creatorcontrib><creatorcontrib>Scherer, Stephen W.</creatorcontrib><creatorcontrib>Hurles, Matthew E.</creatorcontrib><title>Global variation in copy number in the human genome</title><title>Nature</title><addtitle>Nature</addtitle><addtitle>Nature</addtitle><description>Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
Genomics:
vive les différences
Where to next after sequencing the human genome? We want to know how human genomes differ from each other. Last year the International HapMap Project published a map of single nucleotide changes, and now an international consortium has mapped even larger areas of differences, called copy number variants (CNVs). Each CNV involves at least 1,000 base-pair differences between individuals, and they have been linked to both benign and disease-causing changes in the genome. The new map is based on analysis of DNA from 270 individuals. Over 1,400 CNVs were found, covering 12% of the genome. This makes them far more prevalent than was thought, and suggests that unless analysed for directly, these differences could be missed by present strategies used to identify genes mutated in genetic diseases.
Last year the first map of single nucleotide changes was published; now an international consortium has mapped even larger areas of differences, called copy number variants. These variants are at least 1,000-base-pair differences between individual people, and have been linked to both benign and disease-causing changes in the human genome.</description><subject>Biological and medical sciences</subject><subject>Biological variation</subject><subject>Chromosome Mapping</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Dosage</subject><subject>Genes. Genome</subject><subject>Genetic diversity</subject><subject>Genetic resources</subject><subject>Genetic Variation</subject><subject>Genetics</subject><subject>Genetics, Population</subject><subject>Genome, Human</subject><subject>Genomics</subject><subject>Genomics - methods</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Human genetics</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Hybridization</subject><subject>Life Sciences</subject><subject>Linkage Disequilibrium</subject><subject>Molecular and cellular biology</subject><subject>Molecular Diagnostic Techniques</subject><subject>Molecular genetics</subject><subject>multidisciplinary</subject><subject>Oligonucleotide Array Sequence Analysis - methods</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><issn>0028-0836</issn><issn>1476-4687</issn><issn>1476-4679</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqF0t1r2zAQAHAzNtas29PehxlsUDZ3-rIsvQxC2NpC2GDr2KOQlXOiYkupZIf2v69CwpKUjOIHY-l3d9bpsuwtRucYUfHF6X4IgEpK5LNshFnFC8ZF9TwbIUREgQTlJ9mrGG8QQiWu2MvsBFeYEFGiUUYvWl_rNl_pYHVvvcuty41f3udu6GoI689-Afli6LTL5-B8B6-zF41uI7zZvk-zP9-_XU8ui-nPi6vJeFoYgWRfCGAgGIF6Jhsua6JNiZnEspo1dSUBa1w2pRAGa2lqbWij65nBCCNOTEOppKfZ103e5VB3MDPg-qBbtQy20-FeeW3V4Y6zCzX3K0U4l0KKlOBsk2DxKOxyPFXrNURpJRjmK5zsx22x4G8HiL3qbDTQttqBH6LiAleCUvIkpCWWXDD-JMSSpeKMJvj-EbzxQ3CptYogVhKO5fr_ig2a6xaUdY1PRzbpQiCd3DtobFoeY1EyVqWQXdIDb5b2Vu2j8yMoPTPorDma9ewgIJke7vq5HmJUV79_HdpP_7fj67-TH0e1CT7GAM2_C8NIredc7c150u_2R2Nnt4OdwIct0NHotgnaGRt3ThDJiFj3_vPGxbTl5hB2vT9W9wHUEhBJ</recordid><startdate>20061123</startdate><enddate>20061123</enddate><creator>Redon, Richard</creator><creator>Ishikawa, Shumpei</creator><creator>Fitch, Karen R.</creator><creator>Feuk, Lars</creator><creator>Perry, George H.</creator><creator>Andrews, T. 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Daniel ; Fiegler, Heike ; Shapero, Michael H. ; Carson, Andrew R. ; Chen, Wenwei ; Cho, Eun Kyung ; Dallaire, Stephanie ; Freeman, Jennifer L. ; González, Juan R. ; Gratacòs, Mònica ; Huang, Jing ; Kalaitzopoulos, Dimitrios ; Komura, Daisuke ; MacDonald, Jeffrey R. ; Marshall, Christian R. ; Mei, Rui ; Montgomery, Lyndal ; Nishimura, Kunihiro ; Okamura, Kohji ; Shen, Fan ; Somerville, Martin J. ; Tchinda, Joelle ; Valsesia, Armand ; Woodwark, Cara ; Yang, Fengtang ; Zhang, Junjun ; Zerjal, Tatiana ; Zhang, Jane ; Armengol, Lluis ; Conrad, Donald F. ; Estivill, Xavier ; Tyler-Smith, Chris ; Carter, Nigel P. ; Aburatani, Hiroyuki ; Lee, Charles ; Jones, Keith W. ; Scherer, Stephen W. ; Hurles, Matthew E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c809t-8e4e842ebd9f69b2ac5149197dfb79e1a15f588c1a9cbac3fabdc101062cf3393</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Biological and medical sciences</topic><topic>Biological variation</topic><topic>Chromosome Mapping</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Dosage</topic><topic>Genes. Genome</topic><topic>Genetic diversity</topic><topic>Genetic resources</topic><topic>Genetic Variation</topic><topic>Genetics</topic><topic>Genetics, Population</topic><topic>Genome, Human</topic><topic>Genomics</topic><topic>Genomics - methods</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Human genetics</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>Hybridization</topic><topic>Life Sciences</topic><topic>Linkage Disequilibrium</topic><topic>Molecular and cellular biology</topic><topic>Molecular Diagnostic Techniques</topic><topic>Molecular genetics</topic><topic>multidisciplinary</topic><topic>Oligonucleotide Array Sequence Analysis - methods</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Science</topic><topic>Science (multidisciplinary)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Redon, Richard</creatorcontrib><creatorcontrib>Ishikawa, Shumpei</creatorcontrib><creatorcontrib>Fitch, Karen R.</creatorcontrib><creatorcontrib>Feuk, Lars</creatorcontrib><creatorcontrib>Perry, George H.</creatorcontrib><creatorcontrib>Andrews, T. Daniel</creatorcontrib><creatorcontrib>Fiegler, Heike</creatorcontrib><creatorcontrib>Shapero, Michael H.</creatorcontrib><creatorcontrib>Carson, Andrew R.</creatorcontrib><creatorcontrib>Chen, Wenwei</creatorcontrib><creatorcontrib>Cho, Eun Kyung</creatorcontrib><creatorcontrib>Dallaire, Stephanie</creatorcontrib><creatorcontrib>Freeman, Jennifer L.</creatorcontrib><creatorcontrib>González, Juan R.</creatorcontrib><creatorcontrib>Gratacòs, Mònica</creatorcontrib><creatorcontrib>Huang, Jing</creatorcontrib><creatorcontrib>Kalaitzopoulos, Dimitrios</creatorcontrib><creatorcontrib>Komura, Daisuke</creatorcontrib><creatorcontrib>MacDonald, Jeffrey R.</creatorcontrib><creatorcontrib>Marshall, Christian R.</creatorcontrib><creatorcontrib>Mei, Rui</creatorcontrib><creatorcontrib>Montgomery, Lyndal</creatorcontrib><creatorcontrib>Nishimura, Kunihiro</creatorcontrib><creatorcontrib>Okamura, Kohji</creatorcontrib><creatorcontrib>Shen, Fan</creatorcontrib><creatorcontrib>Somerville, Martin J.</creatorcontrib><creatorcontrib>Tchinda, Joelle</creatorcontrib><creatorcontrib>Valsesia, Armand</creatorcontrib><creatorcontrib>Woodwark, Cara</creatorcontrib><creatorcontrib>Yang, Fengtang</creatorcontrib><creatorcontrib>Zhang, Junjun</creatorcontrib><creatorcontrib>Zerjal, Tatiana</creatorcontrib><creatorcontrib>Zhang, Jane</creatorcontrib><creatorcontrib>Armengol, Lluis</creatorcontrib><creatorcontrib>Conrad, Donald F.</creatorcontrib><creatorcontrib>Estivill, Xavier</creatorcontrib><creatorcontrib>Tyler-Smith, Chris</creatorcontrib><creatorcontrib>Carter, Nigel P.</creatorcontrib><creatorcontrib>Aburatani, Hiroyuki</creatorcontrib><creatorcontrib>Lee, Charles</creatorcontrib><creatorcontrib>Jones, Keith W.</creatorcontrib><creatorcontrib>Scherer, Stephen W.</creatorcontrib><creatorcontrib>Hurles, Matthew E.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE 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Aerospace</collection><collection>Computer and Information Systems Abstracts Academic</collection><collection>Computer and Information Systems Abstracts Professional</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Nature</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Redon, Richard</au><au>Ishikawa, Shumpei</au><au>Fitch, Karen R.</au><au>Feuk, Lars</au><au>Perry, George H.</au><au>Andrews, T. Daniel</au><au>Fiegler, Heike</au><au>Shapero, Michael H.</au><au>Carson, Andrew R.</au><au>Chen, Wenwei</au><au>Cho, Eun Kyung</au><au>Dallaire, Stephanie</au><au>Freeman, Jennifer L.</au><au>González, Juan R.</au><au>Gratacòs, Mònica</au><au>Huang, Jing</au><au>Kalaitzopoulos, Dimitrios</au><au>Komura, Daisuke</au><au>MacDonald, Jeffrey R.</au><au>Marshall, Christian R.</au><au>Mei, Rui</au><au>Montgomery, Lyndal</au><au>Nishimura, Kunihiro</au><au>Okamura, Kohji</au><au>Shen, Fan</au><au>Somerville, Martin J.</au><au>Tchinda, Joelle</au><au>Valsesia, Armand</au><au>Woodwark, Cara</au><au>Yang, Fengtang</au><au>Zhang, Junjun</au><au>Zerjal, Tatiana</au><au>Zhang, Jane</au><au>Armengol, Lluis</au><au>Conrad, Donald F.</au><au>Estivill, Xavier</au><au>Tyler-Smith, Chris</au><au>Carter, Nigel P.</au><au>Aburatani, Hiroyuki</au><au>Lee, Charles</au><au>Jones, Keith W.</au><au>Scherer, Stephen W.</au><au>Hurles, Matthew E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Global variation in copy number in the human genome</atitle><jtitle>Nature</jtitle><stitle>Nature</stitle><addtitle>Nature</addtitle><date>2006-11-23</date><risdate>2006</risdate><volume>444</volume><issue>7118</issue><spage>444</spage><epage>454</epage><pages>444-454</pages><issn>0028-0836</issn><eissn>1476-4687</eissn><eissn>1476-4679</eissn><coden>NATUAS</coden><abstract>Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
Genomics:
vive les différences
Where to next after sequencing the human genome? We want to know how human genomes differ from each other. Last year the International HapMap Project published a map of single nucleotide changes, and now an international consortium has mapped even larger areas of differences, called copy number variants (CNVs). Each CNV involves at least 1,000 base-pair differences between individuals, and they have been linked to both benign and disease-causing changes in the genome. The new map is based on analysis of DNA from 270 individuals. Over 1,400 CNVs were found, covering 12% of the genome. This makes them far more prevalent than was thought, and suggests that unless analysed for directly, these differences could be missed by present strategies used to identify genes mutated in genetic diseases.
Last year the first map of single nucleotide changes was published; now an international consortium has mapped even larger areas of differences, called copy number variants. These variants are at least 1,000-base-pair differences between individual people, and have been linked to both benign and disease-causing changes in the human genome.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>17122850</pmid><doi>10.1038/nature05329</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0002-3573-2354</orcidid><orcidid>https://orcid.org/0000-0001-7751-2280</orcidid><orcidid>https://orcid.org/0000-0002-0666-5420</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-0836 |
| ispartof | Nature, 2006-11, Vol.444 (7118), p.444-454 |
| issn | 0028-0836 1476-4687 1476-4679 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2669898 |
| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online |
| subjects | Biological and medical sciences Biological variation Chromosome Mapping Deoxyribonucleic acid DNA Fundamental and applied biological sciences. Psychology Gene Dosage Genes. Genome Genetic diversity Genetic resources Genetic Variation Genetics Genetics, Population Genome, Human Genomics Genomics - methods Genotype Genotype & phenotype Human genetics Humanities and Social Sciences Humans Hybridization Life Sciences Linkage Disequilibrium Molecular and cellular biology Molecular Diagnostic Techniques Molecular genetics multidisciplinary Oligonucleotide Array Sequence Analysis - methods Polymorphism, Single Nucleotide Science Science (multidisciplinary) |
| title | Global variation in copy number in the human genome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-10T18%3A05%3A34IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Global%20variation%20in%20copy%20number%20in%20the%20human%20genome&rft.jtitle=Nature&rft.au=Redon,%20Richard&rft.date=2006-11-23&rft.volume=444&rft.issue=7118&rft.spage=444&rft.epage=454&rft.pages=444-454&rft.issn=0028-0836&rft.eissn=1476-4687&rft.coden=NATUAS&rft_id=info:doi/10.1038/nature05329&rft_dat=%3Cgale_pubme%3EA185447526%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=204526191&rft_id=info:pmid/17122850&rft_galeid=A185447526&rfr_iscdi=true |