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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/125098

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network_name_str CONICET Digital (CONICET)
spelling 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
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str 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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