Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection
The human genome contains hundreds of regions whose patterns of genetic variation indicate recent positive natural selection, yet for most the underlying gene and the advantageous mutation remain unknown. We developed a method, composite of multiple signals (CMS), that combines tests for multiple si...
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| Veröffentlicht in: | Science (American Association for the Advancement of Science) 2010-02, Vol.327 (5967), p.883-886 |
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| creator | Grossman, Sharon R Shylakhter, Ilya Karlsson, Elinor K Byrne, Elizabeth H Morales, Shannon Frieden, Gabriel Hostetter, Elizabeth Angelino, Elaine Garber, Manuel Zuk, Or Lander, Eric S Schaffner, Stephen F Sabeti, Pardis C |
| description | The human genome contains hundreds of regions whose patterns of genetic variation indicate recent positive natural selection, yet for most the underlying gene and the advantageous mutation remain unknown. We developed a method, composite of multiple signals (CMS), that combines tests for multiple signals of selection and increases resolution by up to 100-fold. By applying CMS to candidate regions from the International Haplotype Map, we localized population-specific selective signals to 55 kilobases (median), identifying known and novel causal variants. CMS can not just identify individual loci but implicates precise variants selected by evolution. |
| doi_str_mv | 10.1126/science.1183863 |
| format | Article |
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We developed a method, composite of multiple signals (CMS), that combines tests for multiple signals of selection and increases resolution by up to 100-fold. By applying CMS to candidate regions from the International Haplotype Map, we localized population-specific selective signals to 55 kilobases (median), identifying known and novel causal variants. CMS can not just identify individual loci but implicates precise variants selected by evolution.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.1183863</identifier><identifier>PMID: 20056855</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Association for the Advancement of Science</publisher><subject>Alleles ; Biological and medical sciences ; Biological evolution ; Cellular biology ; Computational Biology - methods ; Datasets ; DNA, Intergenic - genetics ; Evolution ; Evolution, Molecular ; Evolutionary biology ; Fundamental and applied biological sciences. Psychology ; Genes ; Genetic diversity ; Genetic Loci ; Genetic mutation ; Genetic Variation ; Genetics of eukaryotes. Biological and molecular evolution ; Genome, Human ; Genomes ; Genomics ; Haplotypes ; Humans ; Mutation ; Polymorphism, Genetic ; Population Groups - genetics ; Positive selection ; Regulatory Sequences, Nucleic Acid - genetics ; Selection, Genetic ; Signal transduction ; Software</subject><ispartof>Science (American Association for the Advancement of Science), 2010-02, Vol.327 (5967), p.883-886</ispartof><rights>Copyright 2010 American Association for the Advancement of Science</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2010, American Association for the Advancement of Science</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c600t-416304cb9c8ff92b8accdd20478720f91e54ee8b8a257ad262ef4190d53545123</citedby><cites>FETCH-LOGICAL-c600t-416304cb9c8ff92b8accdd20478720f91e54ee8b8a257ad262ef4190d53545123</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/40509918$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/40509918$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,776,780,799,2871,2872,27901,27902,57992,58225</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22405241$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20056855$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Grossman, Sharon R</creatorcontrib><creatorcontrib>Shylakhter, Ilya</creatorcontrib><creatorcontrib>Karlsson, Elinor K</creatorcontrib><creatorcontrib>Byrne, Elizabeth H</creatorcontrib><creatorcontrib>Morales, Shannon</creatorcontrib><creatorcontrib>Frieden, Gabriel</creatorcontrib><creatorcontrib>Hostetter, Elizabeth</creatorcontrib><creatorcontrib>Angelino, Elaine</creatorcontrib><creatorcontrib>Garber, Manuel</creatorcontrib><creatorcontrib>Zuk, Or</creatorcontrib><creatorcontrib>Lander, Eric S</creatorcontrib><creatorcontrib>Schaffner, Stephen F</creatorcontrib><creatorcontrib>Sabeti, Pardis C</creatorcontrib><title>Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>The human genome contains hundreds of regions whose patterns of genetic variation indicate recent positive natural selection, yet for most the underlying gene and the advantageous mutation remain unknown. We developed a method, composite of multiple signals (CMS), that combines tests for multiple signals of selection and increases resolution by up to 100-fold. By applying CMS to candidate regions from the International Haplotype Map, we localized population-specific selective signals to 55 kilobases (median), identifying known and novel causal variants. CMS can not just identify individual loci but implicates precise variants selected by evolution.</description><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Biological evolution</subject><subject>Cellular biology</subject><subject>Computational Biology - methods</subject><subject>Datasets</subject><subject>DNA, Intergenic - genetics</subject><subject>Evolution</subject><subject>Evolution, Molecular</subject><subject>Evolutionary biology</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Genetic diversity</subject><subject>Genetic Loci</subject><subject>Genetic mutation</subject><subject>Genetic Variation</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genome, Human</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Mutation</subject><subject>Polymorphism, Genetic</subject><subject>Population Groups - genetics</subject><subject>Positive selection</subject><subject>Regulatory Sequences, Nucleic Acid - genetics</subject><subject>Selection, Genetic</subject><subject>Signal transduction</subject><subject>Software</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkc2LFDEQxYMo7jh69qQ2gnhqt_LVnRxl_IQVxXU9CSGTTsYMPZ3ZVLfgf2-aaVfwoqeQer96RdUj5CGFF5Sy5hxd9IPz5aO4avgtsqKgZa0Z8NtkBcCbWkErz8g9xD1A0TS_S84YgGyUlCvybZMOx4Rx9FUK1YepH-Ox99Vl3A22x-pVxDEOuynid4_Vxk5o--qrzdEOI1ZxqD77XUwDzs2fZpv4ozT73ruxlO-TO6G4-AfLuyZXb15_2byrLz6-fb95eVG7BmCsBW04CLfVToWg2VZZ57qOgWhVyyBo6qXwXpU6k63tWMN8EFRDJ7kUkjK-Js9PvsecriePozlEdL7v7eDThKYVZW3gkv4HyaXiEvi_Sc7LBYHrQj79i9ynKc_nM4zyBpgqOazJ-QlyOSFmH8wxx4PNPw0FM0dplijNEmXpeLzYTtuD727439kV4NkCWHS2D9kOLuIfjgmQTMw7PzpxexxTvtGLClqXYWvy5KQHm4zd5eJxdcmAcqAKmBaC_wJeRblC</recordid><startdate>20100212</startdate><enddate>20100212</enddate><creator>Grossman, Sharon R</creator><creator>Shylakhter, Ilya</creator><creator>Karlsson, Elinor K</creator><creator>Byrne, Elizabeth H</creator><creator>Morales, Shannon</creator><creator>Frieden, Gabriel</creator><creator>Hostetter, Elizabeth</creator><creator>Angelino, Elaine</creator><creator>Garber, Manuel</creator><creator>Zuk, Or</creator><creator>Lander, Eric S</creator><creator>Schaffner, Stephen F</creator><creator>Sabeti, Pardis C</creator><general>American Association for the Advancement of Science</general><general>The American Association for the Advancement of Science</general><scope>FBQ</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QF</scope><scope>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QQ</scope><scope>7QR</scope><scope>7SC</scope><scope>7SE</scope><scope>7SN</scope><scope>7SP</scope><scope>7SR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TA</scope><scope>7TB</scope><scope>7TK</scope><scope>7TM</scope><scope>7U5</scope><scope>7U9</scope><scope>8BQ</scope><scope>8FD</scope><scope>C1K</scope><scope>F28</scope><scope>FR3</scope><scope>H8D</scope><scope>H8G</scope><scope>H94</scope><scope>JG9</scope><scope>JQ2</scope><scope>K9.</scope><scope>KR7</scope><scope>L7M</scope><scope>L~C</scope><scope>L~D</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20100212</creationdate><title>Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection</title><author>Grossman, Sharon R ; Shylakhter, Ilya ; Karlsson, Elinor K ; Byrne, Elizabeth H ; Morales, Shannon ; Frieden, Gabriel ; Hostetter, Elizabeth ; Angelino, Elaine ; Garber, Manuel ; Zuk, Or ; Lander, Eric S ; Schaffner, Stephen F ; Sabeti, Pardis C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c600t-416304cb9c8ff92b8accdd20478720f91e54ee8b8a257ad262ef4190d53545123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Biological evolution</topic><topic>Cellular biology</topic><topic>Computational Biology - methods</topic><topic>Datasets</topic><topic>DNA, Intergenic - genetics</topic><topic>Evolution</topic><topic>Evolution, Molecular</topic><topic>Evolutionary biology</topic><topic>Fundamental and applied biological sciences. 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| ispartof | Science (American Association for the Advancement of Science), 2010-02, Vol.327 (5967), p.883-886 |
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| subjects | Alleles Biological and medical sciences Biological evolution Cellular biology Computational Biology - methods Datasets DNA, Intergenic - genetics Evolution Evolution, Molecular Evolutionary biology Fundamental and applied biological sciences. Psychology Genes Genetic diversity Genetic Loci Genetic mutation Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Genome, Human Genomes Genomics Haplotypes Humans Mutation Polymorphism, Genetic Population Groups - genetics Positive selection Regulatory Sequences, Nucleic Acid - genetics Selection, Genetic Signal transduction Software |
| title | Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection |
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