Global diversity, population stratification, and selection of human copy number variation
- Autores
- Sudmant, Peter H.; Mallick, Swapan; Nelson, Bradley J.; Hormozdiari, Fereydoun; Krumm, Niklas; Huddleston, John; Coe, Bradley P.; Baker, Carl; Nordenfelt, Susanne; Bamshad, Michael; Jorde, Lynn B.; Posukh, Olga L.; Sahakyan, Hovhannes; Watkins, W. Scott; Yepiskoposyan, Levon; Abdullah, M. Syafiq; Bravi, Claudio Marcelo; Capelli, Cristian; Hervig, Tor; Wee, Joseph TS; Tyler Smith, Chris; George van Driem; Gallego Romero, Irene; Jha, Aashish R.; Karachanak Yankova, Sena; Toncheva, Draga; Comas, David; Henn, Brenna; Kivisild, Toomas; Ruiz-Linares, Andres; Sajantila, Antti; Metspalu, Ene; Parik, Jüri; Villems, Richard; Starikovskaya, Elena B.; Ayodo, George; Beall, Cynthia M.; Di Rienzo, Anna; Hammer, Michael; Khusainova, Rita; Khusnutdinova, Elza; Klitz, William; Winkler, Cheryl; Labuda, Damian; Metspalu, Mait; Tishkoff, Sarah A.; Dryomov, Stanislav; Sukernik, Rem; Patterson, Nick; Reich, David; Eichler, Evan E.
- Año de publicación
- 2015
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- In order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
Fil: Sudmant, Peter H.. University of Washington; Estados Unidos
Fil: Mallick, Swapan. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Nelson, Bradley J.. University of Washington; Estados Unidos
Fil: Hormozdiari, Fereydoun. University of Washington; Estados Unidos
Fil: Krumm, Niklas. University of Washington; Estados Unidos
Fil: Huddleston, John. University of Washington; Estados Unidos
Fil: Coe, Bradley P.. University of Washington; Estados Unidos
Fil: Baker, Carl. University of Washington; Estados Unidos
Fil: Nordenfelt, Susanne. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Bamshad, Michael. University of Washington; Estados Unidos
Fil: Jorde, Lynn B.. University of Utah; Estados Unidos
Fil: Posukh, Olga L.. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Sahakyan, Hovhannes. National Academy Of Sciences Of Armenia; Armenia. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Watkins, W. Scott. University of Utah; Estados Unidos
Fil: Yepiskoposyan, Levon. National Academy Of Sciences Of Armenia; Armenia
Fil: Abdullah, M. Syafiq. Ripas Hospital; Brunéi
Fil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Capelli, Cristian. University of Oxford; Reino Unido
Fil: Hervig, Tor. University of Bergen; Noruega
Fil: Wee, Joseph TS. National Cancer Centre Singapore; Singapur
Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino Unido
Fil: George van Driem. University Of Bern; Suiza
Fil: Gallego Romero, Irene. University of Chicago; Estados Unidos
Fil: Jha, Aashish R.. University of Chicago; Estados Unidos
Fil: Karachanak Yankova, Sena. National Human Genome Center, Medical University Sofia; Bulgaria
Fil: Toncheva, Draga. National Human Genome Center, Medical University Sofia; Bulgaria
Fil: Comas, David. Universitat Pompeu Fabra; España
Fil: Henn, Brenna. Department Of Ecology And Evolution, Stony Brook Univer; Estados Unidos
Fil: Kivisild, Toomas. University of Cambridge; Reino Unido
Fil: Ruiz-Linares, Andres. University College London; Estados Unidos
Fil: Sajantila, Antti. University Of Helsinki; Finlandia
Fil: Metspalu, Ene. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Parik, Jüri. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Villems, Richard. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Starikovskaya, Elena B.. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Ayodo, George. Center For Global Health And Child Development; Kenia
Fil: Beall, Cynthia M.. Case Western Reserve University; Estados Unidos
Fil: Di Rienzo, Anna. University of Chicago; Estados Unidos
Fil: Hammer, Michael. University of Arizona; Estados Unidos
Fil: Khusainova, Rita. Ufa Research Centre, Russian Academy Of Sciences; Rusia
Fil: Khusnutdinova, Elza. Ufa Research Centre, Russian Academy Of Sciences; Rusia
Fil: Klitz, William. University of California; Estados Unidos
Fil: Winkler, Cheryl. Center For Cancer Research, Nci, Leidos Biomedical Res; Estados Unidos
Fil: Labuda, Damian. Pediatrics Departement, Université de Montréal; Canadá
Fil: Metspalu, Mait. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Tishkoff, Sarah A.. University of Pennsylvania; Estados Unidos
Fil: Dryomov, Stanislav. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Sukernik, Rem. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Patterson, Nick. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Reich, David. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Eichler, Evan E.. University of Washington; Estados Unidos - Materia
-
HUMAN GENOME
COPY NUMBER VARIATION
INDEL - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/125098
Ver los metadatos del registro completo
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Global diversity, population stratification, and selection of human copy number variationSudmant, Peter H.Mallick, SwapanNelson, Bradley J.Hormozdiari, FereydounKrumm, NiklasHuddleston, JohnCoe, Bradley P.Baker, CarlNordenfelt, SusanneBamshad, MichaelJorde, Lynn B.Posukh, Olga L.Sahakyan, HovhannesWatkins, W. ScottYepiskoposyan, LevonAbdullah, M. SyafiqBravi, Claudio MarceloCapelli, CristianHervig, TorWee, Joseph TSTyler Smith, ChrisGeorge van DriemGallego Romero, IreneJha, Aashish R.Karachanak Yankova, SenaToncheva, DragaComas, DavidHenn, BrennaKivisild, ToomasRuiz-Linares, AndresSajantila, AnttiMetspalu, EneParik, JüriVillems, RichardStarikovskaya, Elena B.Ayodo, GeorgeBeall, Cynthia M.Di Rienzo, AnnaHammer, MichaelKhusainova, RitaKhusnutdinova, ElzaKlitz, WilliamWinkler, CherylLabuda, DamianMetspalu, MaitTishkoff, Sarah A.Dryomov, StanislavSukernik, RemPatterson, NickReich, DavidEichler, Evan E.HUMAN GENOMECOPY NUMBER VARIATIONINDELhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1In order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.Fil: Sudmant, Peter H.. University of Washington; Estados UnidosFil: Mallick, Swapan. Broad Institute Of Harvard And Mit; Estados UnidosFil: Nelson, Bradley J.. University of Washington; Estados UnidosFil: Hormozdiari, Fereydoun. University of Washington; Estados UnidosFil: Krumm, Niklas. University of Washington; Estados UnidosFil: Huddleston, John. University of Washington; Estados UnidosFil: Coe, Bradley P.. University of Washington; Estados UnidosFil: Baker, Carl. University of Washington; Estados UnidosFil: Nordenfelt, Susanne. Broad Institute Of Harvard And Mit; Estados UnidosFil: Bamshad, Michael. University of Washington; Estados UnidosFil: Jorde, Lynn B.. University of Utah; Estados UnidosFil: Posukh, Olga L.. Siberian Branch Of Russian Academy Of Sciences; RusiaFil: Sahakyan, Hovhannes. National Academy Of Sciences Of Armenia; Armenia. Estonian Biocentre, Evolutionary Biology Group; EstoniaFil: Watkins, W. Scott. University of Utah; Estados UnidosFil: Yepiskoposyan, Levon. National Academy Of Sciences Of Armenia; ArmeniaFil: Abdullah, M. Syafiq. Ripas Hospital; BrunéiFil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Capelli, Cristian. University of Oxford; Reino UnidoFil: Hervig, Tor. University of Bergen; NoruegaFil: Wee, Joseph TS. National Cancer Centre Singapore; SingapurFil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino UnidoFil: George van Driem. University Of Bern; SuizaFil: Gallego Romero, Irene. University of Chicago; Estados UnidosFil: Jha, Aashish R.. University of Chicago; Estados UnidosFil: Karachanak Yankova, Sena. National Human Genome Center, Medical University Sofia; BulgariaFil: Toncheva, Draga. National Human Genome Center, Medical University Sofia; BulgariaFil: Comas, David. Universitat Pompeu Fabra; EspañaFil: Henn, Brenna. Department Of Ecology And Evolution, Stony Brook Univer; Estados UnidosFil: Kivisild, Toomas. University of Cambridge; Reino UnidoFil: Ruiz-Linares, Andres. University College London; Estados UnidosFil: Sajantila, Antti. University Of Helsinki; FinlandiaFil: Metspalu, Ene. Estonian Biocentre, Evolutionary Biology Group; EstoniaFil: Parik, Jüri. Estonian Biocentre, Evolutionary Biology Group; EstoniaFil: Villems, Richard. Estonian Biocentre, Evolutionary Biology Group; EstoniaFil: Starikovskaya, Elena B.. Siberian Branch Of Russian Academy Of Sciences; RusiaFil: Ayodo, George. Center For Global Health And Child Development; KeniaFil: Beall, Cynthia M.. Case Western Reserve University; Estados UnidosFil: Di Rienzo, Anna. University of Chicago; Estados UnidosFil: Hammer, Michael. University of Arizona; Estados UnidosFil: Khusainova, Rita. Ufa Research Centre, Russian Academy Of Sciences; RusiaFil: Khusnutdinova, Elza. Ufa Research Centre, Russian Academy Of Sciences; RusiaFil: Klitz, William. University of California; Estados UnidosFil: Winkler, Cheryl. Center For Cancer Research, Nci, Leidos Biomedical Res; Estados UnidosFil: Labuda, Damian. Pediatrics Departement, Université de Montréal; CanadáFil: Metspalu, Mait. Estonian Biocentre, Evolutionary Biology Group; EstoniaFil: Tishkoff, Sarah A.. University of Pennsylvania; Estados UnidosFil: Dryomov, Stanislav. Siberian Branch Of Russian Academy Of Sciences; RusiaFil: Sukernik, Rem. Siberian Branch Of Russian Academy Of Sciences; RusiaFil: Patterson, Nick. Broad Institute Of Harvard And Mit; Estados UnidosFil: Reich, David. Broad Institute Of Harvard And Mit; Estados UnidosFil: Eichler, Evan E.. University of Washington; Estados UnidosAmerican Association for the Advancement of Science2015-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/125098Sudmant, Peter H.; Mallick, Swapan; Nelson, Bradley J.; Hormozdiari, Fereydoun; Krumm, Niklas; et al.; Global diversity, population stratification, and selection of human copy number variation; American Association for the Advancement of Science; Science; 1; 1; 8-2015; 1-20036-8075CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.sciencemag.org/content/early/2015/08/05/science.aab3761.abstractinfo:eu-repo/semantics/altIdentifier/doi/10.1126/science.aab3761info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568308/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:10:52Zoai:ri.conicet.gov.ar:11336/125098instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 15:10:53.246CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Global diversity, population stratification, and selection of human copy number variation |
title |
Global diversity, population stratification, and selection of human copy number variation |
spellingShingle |
Global diversity, population stratification, and selection of human copy number variation Sudmant, Peter H. HUMAN GENOME COPY NUMBER VARIATION INDEL |
title_short |
Global diversity, population stratification, and selection of human copy number variation |
title_full |
Global diversity, population stratification, and selection of human copy number variation |
title_fullStr |
Global diversity, population stratification, and selection of human copy number variation |
title_full_unstemmed |
Global diversity, population stratification, and selection of human copy number variation |
title_sort |
Global diversity, population stratification, and selection of human copy number variation |
dc.creator.none.fl_str_mv |
Sudmant, Peter H. Mallick, Swapan Nelson, Bradley J. Hormozdiari, Fereydoun Krumm, Niklas Huddleston, John Coe, Bradley P. Baker, Carl Nordenfelt, Susanne Bamshad, Michael Jorde, Lynn B. Posukh, Olga L. Sahakyan, Hovhannes Watkins, W. Scott Yepiskoposyan, Levon Abdullah, M. Syafiq Bravi, Claudio Marcelo Capelli, Cristian Hervig, Tor Wee, Joseph TS Tyler Smith, Chris George van Driem Gallego Romero, Irene Jha, Aashish R. Karachanak Yankova, Sena Toncheva, Draga Comas, David Henn, Brenna Kivisild, Toomas Ruiz-Linares, Andres Sajantila, Antti Metspalu, Ene Parik, Jüri Villems, Richard Starikovskaya, Elena B. Ayodo, George Beall, Cynthia M. Di Rienzo, Anna Hammer, Michael Khusainova, Rita Khusnutdinova, Elza Klitz, William Winkler, Cheryl Labuda, Damian Metspalu, Mait Tishkoff, Sarah A. Dryomov, Stanislav Sukernik, Rem Patterson, Nick Reich, David Eichler, Evan E. |
author |
Sudmant, Peter H. |
author_facet |
Sudmant, Peter H. Mallick, Swapan Nelson, Bradley J. Hormozdiari, Fereydoun Krumm, Niklas Huddleston, John Coe, Bradley P. Baker, Carl Nordenfelt, Susanne Bamshad, Michael Jorde, Lynn B. Posukh, Olga L. Sahakyan, Hovhannes Watkins, W. Scott Yepiskoposyan, Levon Abdullah, M. Syafiq Bravi, Claudio Marcelo Capelli, Cristian Hervig, Tor Wee, Joseph TS Tyler Smith, Chris George van Driem Gallego Romero, Irene Jha, Aashish R. Karachanak Yankova, Sena Toncheva, Draga Comas, David Henn, Brenna Kivisild, Toomas Ruiz-Linares, Andres Sajantila, Antti Metspalu, Ene Parik, Jüri Villems, Richard Starikovskaya, Elena B. Ayodo, George Beall, Cynthia M. Di Rienzo, Anna Hammer, Michael Khusainova, Rita Khusnutdinova, Elza Klitz, William Winkler, Cheryl Labuda, Damian Metspalu, Mait Tishkoff, Sarah A. Dryomov, Stanislav Sukernik, Rem Patterson, Nick Reich, David Eichler, Evan E. |
author_role |
author |
author2 |
Mallick, Swapan Nelson, Bradley J. Hormozdiari, Fereydoun Krumm, Niklas Huddleston, John Coe, Bradley P. Baker, Carl Nordenfelt, Susanne Bamshad, Michael Jorde, Lynn B. Posukh, Olga L. Sahakyan, Hovhannes Watkins, W. Scott Yepiskoposyan, Levon Abdullah, M. Syafiq Bravi, Claudio Marcelo Capelli, Cristian Hervig, Tor Wee, Joseph TS Tyler Smith, Chris George van Driem Gallego Romero, Irene Jha, Aashish R. Karachanak Yankova, Sena Toncheva, Draga Comas, David Henn, Brenna Kivisild, Toomas Ruiz-Linares, Andres Sajantila, Antti Metspalu, Ene Parik, Jüri Villems, Richard Starikovskaya, Elena B. Ayodo, George Beall, Cynthia M. Di Rienzo, Anna Hammer, Michael Khusainova, Rita Khusnutdinova, Elza Klitz, William Winkler, Cheryl Labuda, Damian Metspalu, Mait Tishkoff, Sarah A. Dryomov, Stanislav Sukernik, Rem Patterson, Nick Reich, David Eichler, Evan E. |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.subject.none.fl_str_mv |
HUMAN GENOME COPY NUMBER VARIATION INDEL |
topic |
HUMAN GENOME COPY NUMBER VARIATION INDEL |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1 |
dc.description.none.fl_txt_mv |
In order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load. Fil: Sudmant, Peter H.. University of Washington; Estados Unidos Fil: Mallick, Swapan. Broad Institute Of Harvard And Mit; Estados Unidos Fil: Nelson, Bradley J.. University of Washington; Estados Unidos Fil: Hormozdiari, Fereydoun. University of Washington; Estados Unidos Fil: Krumm, Niklas. University of Washington; Estados Unidos Fil: Huddleston, John. University of Washington; Estados Unidos Fil: Coe, Bradley P.. University of Washington; Estados Unidos Fil: Baker, Carl. University of Washington; Estados Unidos Fil: Nordenfelt, Susanne. Broad Institute Of Harvard And Mit; Estados Unidos Fil: Bamshad, Michael. University of Washington; Estados Unidos Fil: Jorde, Lynn B.. University of Utah; Estados Unidos Fil: Posukh, Olga L.. Siberian Branch Of Russian Academy Of Sciences; Rusia Fil: Sahakyan, Hovhannes. National Academy Of Sciences Of Armenia; Armenia. Estonian Biocentre, Evolutionary Biology Group; Estonia Fil: Watkins, W. Scott. University of Utah; Estados Unidos Fil: Yepiskoposyan, Levon. National Academy Of Sciences Of Armenia; Armenia Fil: Abdullah, M. Syafiq. Ripas Hospital; Brunéi Fil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Capelli, Cristian. University of Oxford; Reino Unido Fil: Hervig, Tor. University of Bergen; Noruega Fil: Wee, Joseph TS. National Cancer Centre Singapore; Singapur Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino Unido Fil: George van Driem. University Of Bern; Suiza Fil: Gallego Romero, Irene. University of Chicago; Estados Unidos Fil: Jha, Aashish R.. University of Chicago; Estados Unidos Fil: Karachanak Yankova, Sena. National Human Genome Center, Medical University Sofia; Bulgaria Fil: Toncheva, Draga. National Human Genome Center, Medical University Sofia; Bulgaria Fil: Comas, David. Universitat Pompeu Fabra; España Fil: Henn, Brenna. Department Of Ecology And Evolution, Stony Brook Univer; Estados Unidos Fil: Kivisild, Toomas. University of Cambridge; Reino Unido Fil: Ruiz-Linares, Andres. University College London; Estados Unidos Fil: Sajantila, Antti. University Of Helsinki; Finlandia Fil: Metspalu, Ene. Estonian Biocentre, Evolutionary Biology Group; Estonia Fil: Parik, Jüri. Estonian Biocentre, Evolutionary Biology Group; Estonia Fil: Villems, Richard. Estonian Biocentre, Evolutionary Biology Group; Estonia Fil: Starikovskaya, Elena B.. Siberian Branch Of Russian Academy Of Sciences; Rusia Fil: Ayodo, George. Center For Global Health And Child Development; Kenia Fil: Beall, Cynthia M.. Case Western Reserve University; Estados Unidos Fil: Di Rienzo, Anna. University of Chicago; Estados Unidos Fil: Hammer, Michael. University of Arizona; Estados Unidos Fil: Khusainova, Rita. Ufa Research Centre, Russian Academy Of Sciences; Rusia Fil: Khusnutdinova, Elza. Ufa Research Centre, Russian Academy Of Sciences; Rusia Fil: Klitz, William. University of California; Estados Unidos Fil: Winkler, Cheryl. Center For Cancer Research, Nci, Leidos Biomedical Res; Estados Unidos Fil: Labuda, Damian. Pediatrics Departement, Université de Montréal; Canadá Fil: Metspalu, Mait. Estonian Biocentre, Evolutionary Biology Group; Estonia Fil: Tishkoff, Sarah A.. University of Pennsylvania; Estados Unidos Fil: Dryomov, Stanislav. Siberian Branch Of Russian Academy Of Sciences; Rusia Fil: Sukernik, Rem. Siberian Branch Of Russian Academy Of Sciences; Rusia Fil: Patterson, Nick. Broad Institute Of Harvard And Mit; Estados Unidos Fil: Reich, David. Broad Institute Of Harvard And Mit; Estados Unidos Fil: Eichler, Evan E.. University of Washington; Estados Unidos |
description |
In order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-08 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/125098 Sudmant, Peter H.; Mallick, Swapan; Nelson, Bradley J.; Hormozdiari, Fereydoun; Krumm, Niklas; et al.; Global diversity, population stratification, and selection of human copy number variation; American Association for the Advancement of Science; Science; 1; 1; 8-2015; 1-2 0036-8075 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/125098 |
identifier_str_mv |
Sudmant, Peter H.; Mallick, Swapan; Nelson, Bradley J.; Hormozdiari, Fereydoun; Krumm, Niklas; et al.; Global diversity, population stratification, and selection of human copy number variation; American Association for the Advancement of Science; Science; 1; 1; 8-2015; 1-2 0036-8075 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/http://www.sciencemag.org/content/early/2015/08/05/science.aab3761.abstract info:eu-repo/semantics/altIdentifier/doi/10.1126/science.aab3761 info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568308/ |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
American Association for the Advancement of Science |
publisher.none.fl_str_mv |
American Association for the Advancement of Science |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.22299 |