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
- Institución
- Comisión de Investigaciones Científicas de la Provincia de Buenos Aires
- OAI Identificador
- oai:digital.cic.gba.gob.ar:11746/4263
Ver los metadatos del registro completo
id |
CICBA_126b77e3280b521cd509bf416c5bd8ba |
---|---|
oai_identifier_str |
oai:digital.cic.gba.gob.ar:11746/4263 |
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 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 |
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 |
_version_ |
1844618618998882304 |
score |
13.070432 |