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dc.contributor.author
Sudmant, Peter H.
dc.contributor.author
Mallick, Swapan
dc.contributor.author
Nelson, Bradley J.
dc.contributor.author
Hormozdiari, Fereydoun
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Krumm, Niklas
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Huddleston, John
dc.contributor.author
Coe, Bradley P.
dc.contributor.author
Baker, Carl
dc.contributor.author
Nordenfelt, Susanne
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Bamshad, Michael
dc.contributor.author
Jorde, Lynn B.
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Posukh, Olga L.
dc.contributor.author
Sahakyan, Hovhannes
dc.contributor.author
Watkins, W. Scott
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Yepiskoposyan, Levon
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Abdullah, M. Syafiq
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Bravi, Claudio Marcelo
dc.contributor.author
Capelli, Cristian
dc.contributor.author
Hervig, Tor
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Wee, Joseph TS
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Tyler Smith, Chris
dc.contributor.author
George van Driem
dc.contributor.author
Gallego Romero, Irene
dc.contributor.author
Jha, Aashish R.
dc.contributor.author
Karachanak Yankova, Sena
dc.contributor.author
Toncheva, Draga
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Comas, David
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Henn, Brenna
dc.contributor.author
Kivisild, Toomas
dc.contributor.author
Ruiz-Linares, Andres
dc.contributor.author
Sajantila, Antti
dc.contributor.author
Metspalu, Ene
dc.contributor.author
Parik, Jüri
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Villems, Richard
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Starikovskaya, Elena B.
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Ayodo, George
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Beall, Cynthia M.
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Di Rienzo, Anna
dc.contributor.author
Hammer, Michael
dc.contributor.author
Khusainova, Rita
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Khusnutdinova, Elza
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Klitz, William
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Winkler, Cheryl
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Labuda, Damian
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Metspalu, Mait
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Tishkoff, Sarah A.
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Dryomov, Stanislav
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Sukernik, Rem
dc.contributor.author
Patterson, Nick
dc.contributor.author
Reich, David
dc.contributor.author
Eichler, Evan E.
dc.date.available
2021-02-08T14:52:47Z
dc.date.issued
2015-08
dc.identifier.citation
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
dc.identifier.issn
0036-8075
dc.identifier.uri
http://hdl.handle.net/11336/125098
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
American Association for the Advancement of Science
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
HUMAN GENOME
dc.subject
COPY NUMBER VARIATION
dc.subject
INDEL
dc.subject.classification
Genética y Herencia
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Ciencias Biológicas
dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
dc.title
Global diversity, population stratification, and selection of human copy number variation
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-09-24T17:35:59Z
dc.journal.volume
1
dc.journal.number
1
dc.journal.pagination
1-2
dc.journal.pais
Estados Unidos
dc.description.fil
Fil: Sudmant, Peter H.. University of Washington; Estados Unidos
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Fil: Mallick, Swapan. Broad Institute Of Harvard And Mit; Estados Unidos
dc.description.fil
Fil: Nelson, Bradley J.. University of Washington; Estados Unidos
dc.description.fil
Fil: Hormozdiari, Fereydoun. University of Washington; Estados Unidos
dc.description.fil
Fil: Krumm, Niklas. University of Washington; Estados Unidos
dc.description.fil
Fil: Huddleston, John. University of Washington; Estados Unidos
dc.description.fil
Fil: Coe, Bradley P.. University of Washington; Estados Unidos
dc.description.fil
Fil: Baker, Carl. University of Washington; Estados Unidos
dc.description.fil
Fil: Nordenfelt, Susanne. Broad Institute Of Harvard And Mit; Estados Unidos
dc.description.fil
Fil: Bamshad, Michael. University of Washington; Estados Unidos
dc.description.fil
Fil: Jorde, Lynn B.. University of Utah; Estados Unidos
dc.description.fil
Fil: Posukh, Olga L.. Siberian Branch Of Russian Academy Of Sciences; Rusia
dc.description.fil
Fil: Sahakyan, Hovhannes. National Academy Of Sciences Of Armenia; Armenia. Estonian Biocentre, Evolutionary Biology Group; Estonia
dc.description.fil
Fil: Watkins, W. Scott. University of Utah; Estados Unidos
dc.description.fil
Fil: Yepiskoposyan, Levon. National Academy Of Sciences Of Armenia; Armenia
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Fil: Abdullah, M. Syafiq. Ripas Hospital; Brunéi
dc.description.fil
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
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Fil: Capelli, Cristian. University of Oxford; Reino Unido
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Fil: Hervig, Tor. University of Bergen; Noruega
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Fil: Wee, Joseph TS. National Cancer Centre Singapore; Singapur
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Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino Unido
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Fil: George van Driem. University Of Bern; Suiza
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Fil: Gallego Romero, Irene. University of Chicago; Estados Unidos
dc.description.fil
Fil: Jha, Aashish R.. University of Chicago; Estados Unidos
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Fil: Karachanak Yankova, Sena. National Human Genome Center, Medical University Sofia; Bulgaria
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Fil: Toncheva, Draga. National Human Genome Center, Medical University Sofia; Bulgaria
dc.description.fil
Fil: Comas, David. Universitat Pompeu Fabra; España
dc.description.fil
Fil: Henn, Brenna. Department Of Ecology And Evolution, Stony Brook Univer; Estados Unidos
dc.description.fil
Fil: Kivisild, Toomas. University of Cambridge; Reino Unido
dc.description.fil
Fil: Ruiz-Linares, Andres. University College London; Estados Unidos
dc.description.fil
Fil: Sajantila, Antti. University Of Helsinki; Finlandia
dc.description.fil
Fil: Metspalu, Ene. Estonian Biocentre, Evolutionary Biology Group; Estonia
dc.description.fil
Fil: Parik, Jüri. Estonian Biocentre, Evolutionary Biology Group; Estonia
dc.description.fil
Fil: Villems, Richard. Estonian Biocentre, Evolutionary Biology Group; Estonia
dc.description.fil
Fil: Starikovskaya, Elena B.. Siberian Branch Of Russian Academy Of Sciences; Rusia
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Fil: Ayodo, George. Center For Global Health And Child Development; Kenia
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Fil: Beall, Cynthia M.. Case Western Reserve University; Estados Unidos
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Fil: Di Rienzo, Anna. University of Chicago; Estados Unidos
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Fil: Hammer, Michael. University of Arizona; Estados Unidos
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Fil: Khusainova, Rita. Ufa Research Centre, Russian Academy Of Sciences; Rusia
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Fil: Khusnutdinova, Elza. Ufa Research Centre, Russian Academy Of Sciences; Rusia
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Fil: Klitz, William. University of California; Estados Unidos
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Fil: Winkler, Cheryl. Center For Cancer Research, Nci, Leidos Biomedical Res; Estados Unidos
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Fil: Labuda, Damian. Pediatrics Departement, Université de Montréal; Canadá
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Fil: Metspalu, Mait. Estonian Biocentre, Evolutionary Biology Group; Estonia
dc.description.fil
Fil: Tishkoff, Sarah A.. University of Pennsylvania; Estados Unidos
dc.description.fil
Fil: Dryomov, Stanislav. Siberian Branch Of Russian Academy Of Sciences; Rusia
dc.description.fil
Fil: Sukernik, Rem. Siberian Branch Of Russian Academy Of Sciences; Rusia
dc.description.fil
Fil: Patterson, Nick. Broad Institute Of Harvard And Mit; Estados Unidos
dc.description.fil
Fil: Reich, David. Broad Institute Of Harvard And Mit; Estados Unidos
dc.description.fil
Fil: Eichler, Evan E.. University of Washington; Estados Unidos
dc.journal.title
Science
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.sciencemag.org/content/early/2015/08/05/science.aab3761.abstract
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1126/science.aab3761
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568308/
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