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dc.contributor.author
Colonna, Vicenza
dc.contributor.author
Ayub, Qasim
dc.contributor.author
Chen, Yua
dc.contributor.author
Pagani, Luca
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Luisi, Pierre
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Pybus, Marc
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Garrison, Erik
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Xue, Yali
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Tyler Smith, Chris
dc.contributor.author
Genomes Project Consortium
dc.date.available
2020-04-16T20:09:17Z
dc.date.issued
2016-06-30
dc.identifier.citation
Colonna, Vicenza; Ayub, Qasim; Chen, Yua; Pagani, Luca; Luisi, Pierre; et al.; Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences; BioMed Central; Genome Biology; 15; 30-6-2016; 1-14
dc.identifier.issn
1474-760X
dc.identifier.uri
http://hdl.handle.net/11336/102804
dc.description.abstract
Population differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential to identify loci subject to balancing selection. We have previously investigated the pattern of genetic differentiation among human populations at 36.8 million genomic variants to identify sites in the genome showing high frequency differences. Here, we extend this dataset to include additional variants, survey sites with low levels of differentiation, and evaluate the extent to which highly differentiated sites are likely to result from selective or other processes. We demonstrate that while sites with low differentiation represent sampling effects rather than balancing selection, sites showing extremely high population differentiation are enriched for positive selection events and that one half may be the result of classic selective sweeps. Among these, we rediscover known examples, where we actually identify the established functional SNP, and discover novel examples including the genes ABCA12, CALD1 and ZNF804, which we speculate may be linked to adaptations in skin, calcium metabolism and defense, respectively. We identify known and many novel candidate regions for geographically restricted positive selection, and suggest several directions for further research.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
BioMed Central
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
POSITIVE SELECTION
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BALANCING SELECTION
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SELECTIVE SWEEP
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SOFT SWEEP
dc.subject.classification
Biología
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Ciencias Biológicas
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CIENCIAS NATURALES Y EXACTAS
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Genética y Herencia
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Ciencias Biológicas
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CIENCIAS NATURALES Y EXACTAS
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Otras Historia y Arqueología
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Historia y Arqueología
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HUMANIDADES
dc.title
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-03-11T13:07:28Z
dc.identifier.eissn
1474-7596
dc.journal.volume
15
dc.journal.pagination
1-14
dc.journal.pais
Reino Unido
dc.journal.ciudad
Londres
dc.description.fil
Fil: Colonna, Vicenza. National Research Council; Italia. The Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Ayub, Qasim. The Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Chen, Yua. The Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Pagani, Luca. The Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Luisi, Pierre. Universitat Pompeu Fabra; España. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
dc.description.fil
Fil: Pybus, Marc. Universitat Pompeu Fabra; España
dc.description.fil
Fil: Garrison, Erik. Boston College; Estados Unidos
dc.description.fil
Fil: Xue, Yali. The Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Genomes Project Consortium. 1000 Genomes Proyect Consortium; Estados Unidos
dc.journal.title
Genome Biology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://genomebiology.biomedcentral.com/articles/10.1186/gb-2014-15-6-r88
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1186/gb-2014-15-6-r88
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pubmed/24980144
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