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, Scott; Yepiskoposyan, Levon; Abdullah, M. Syafiq; Bravi, Claudio M.; Capelli, Cristian; Hervig, Tor; Wee, Joseph T. S.; Tyler-Smith, Chris; van Driem, George; 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 enviada
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.
Materia
Biología Celular, Microbiología
global diversity
population stratification
selection of human copy number variation
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by/4.0/
Repositorio
CIC Digital (CICBA)
Institución
Comisión de Investigaciones Científicas de la Provincia de Buenos Aires
OAI Identificador
oai:digital.cic.gba.gob.ar:11746/4263

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network_acronym_str CICBA
repository_id_str 9441
network_name_str CIC Digital (CICBA)
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, ScottYepiskoposyan, LevonAbdullah, M. SyafiqBravi, Claudio M.Capelli, CristianHervig, TorWee, Joseph T. S.Tyler-Smith, Chrisvan Driem, GeorgeGallego 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.Biología Celular, Microbiologíaglobal diversitypopulation stratificationselection of human copy number variationIn 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.2015info:eu-repo/semantics/articleinfo:eu-repo/semantics/submittedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttps://digital.cic.gba.gob.ar/handle/11746/4263enginfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/reponame:CIC Digital (CICBA)instname:Comisión de Investigaciones Científicas de la Provincia de Buenos Airesinstacron:CICBA2025-09-29T13:40:21Zoai:digital.cic.gba.gob.ar:11746/4263Institucionalhttp://digital.cic.gba.gob.arOrganismo científico-tecnológicoNo correspondehttp://digital.cic.gba.gob.ar/oai/snrdmarisa.degiusti@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:94412025-09-29 13:40:21.78CIC Digital (CICBA) - Comisión de Investigaciones Científicas de la Provincia de Buenos Airesfalse
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.
Biología Celular, Microbiología
global diversity
population stratification
selection of human copy number variation
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, Scott
Yepiskoposyan, Levon
Abdullah, M. Syafiq
Bravi, Claudio M.
Capelli, Cristian
Hervig, Tor
Wee, Joseph T. S.
Tyler-Smith, Chris
van Driem, George
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, Scott
Yepiskoposyan, Levon
Abdullah, M. Syafiq
Bravi, Claudio M.
Capelli, Cristian
Hervig, Tor
Wee, Joseph T. S.
Tyler-Smith, Chris
van Driem, George
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, Scott
Yepiskoposyan, Levon
Abdullah, M. Syafiq
Bravi, Claudio M.
Capelli, Cristian
Hervig, Tor
Wee, Joseph T. S.
Tyler-Smith, Chris
van Driem, George
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
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author
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author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
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author
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dc.subject.none.fl_str_mv Biología Celular, Microbiología
global diversity
population stratification
selection of human copy number variation
topic Biología Celular, Microbiología
global diversity
population stratification
selection of human copy number variation
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.
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
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/submittedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str submittedVersion
dc.identifier.none.fl_str_mv https://digital.cic.gba.gob.ar/handle/11746/4263
url https://digital.cic.gba.gob.ar/handle/11746/4263
dc.language.none.fl_str_mv eng
language eng
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:CIC Digital (CICBA)
instname:Comisión de Investigaciones Científicas de la Provincia de Buenos Aires
instacron:CICBA
reponame_str CIC Digital (CICBA)
collection CIC Digital (CICBA)
instname_str Comisión de Investigaciones Científicas de la Provincia de Buenos Aires
instacron_str CICBA
institution CICBA
repository.name.fl_str_mv CIC Digital (CICBA) - Comisión de Investigaciones Científicas de la Provincia de Buenos Aires
repository.mail.fl_str_mv marisa.degiusti@sedici.unlp.edu.ar
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