PopHuman: the human population genomics browser

Mostra el registre complet Registre parcial de l'ítem

• dc.contributor.author Casillas, Sòniaca
• dc.contributor.author Mulet, Rogerca
• dc.contributor.author Villegas Mirón, Pabloca
• dc.contributor.author Hervas, Sergica
• dc.contributor.author Sanz, Esteveca
• dc.contributor.author Velasco, Danielca
• dc.contributor.author Bertranpetit, Jaume, 1952-ca
• dc.contributor.author Laayouni, Hafid, 1968-ca
• dc.contributor.author Barbadilla, Antonioca
• dc.date.accessioned 2018-02-14T11:53:57Z
• dc.date.available 2018-02-14T11:53:57Z
• dc.date.issued 2018
• dc.description.abstract The 1000 Genomes Project (1000GP) represents the most comprehensive world-wide nucleotide variation data set so far in humans, providing the sequencing and analysis of 2504 genomes from 26 populations and reporting >84 million variants. The availability of this sequence data provides the human lineage with an invaluable resource for population genomics studies, allowing the testing of molecular population genetics hypotheses and eventually the understanding of the evolutionary dynamics of genetic variation in human populations. Here we present PopHuman, a new population genomics-oriented genome browser based on JBrowse that allows the interactive visualization and retrieval of an extensive inventory of population genetics metrics. Efficient and reliable parameter estimates have been computed using a novel pipeline that faces the unique features and limitations of the 1000GP data, and include a battery of nucleotide variation measures, divergence and linkage disequilibrium parameters, as well as different tests of neutrality, estimated in non-overlapping windows along the chromosomes and in annotated genes for all 26 populations of the 1000GP. PopHuman is open and freely available at http://pophuman.uab.cat.
• dc.description.sponsorship Ministerio de Economía y Competitividad/European Regional Development Fund [grant numbers BFU2013-42649-P to A.B., BFU2016-77961-P to J.B.]; Generalitat de Catalunya [2014-SGR-1346, 2014-SGR-866]; Departament de Genètica i de Microbiologia of the Universitat Autònoma de Barcelona [12ª PIPF to S.H.]; Youth Employment Initiative and European Social Fund [PEJ-2014 to E.S]. Funding for open access charge: Ministerio de Economía y Competitividad/European Regional Development Fund [BFU2013-42649-P to A.B., BFU2016-77961-P to J.B.].
• dc.format.mimetype application/pdf
• dc.identifier.citation Casillas S, Mulet R, Villegas-Mirón P, Hervas S, Sanz E, Velasco D et al. PopHuman: the human population genomics browser. Nucleic Acids Res. 2018 Jan 4;46(1):1003-10. DOI: 10.1093/nar/gkx943
• dc.identifier.doi http://dx.doi.org/10.1093/nar/gkx943
• dc.identifier.issn 0305-1048
• dc.identifier.uri http://hdl.handle.net/10230/33865
• dc.language.iso eng
• dc.publisher Oxford University Pressca
• dc.relation.ispartof Nucleic Acids Research. 2018 Jan 4;46(1):1003-10
• dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BFU2013-42649-P
• dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BFU2016-77961-P
• dc.rights © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Genome browser
• dc.subject.keyword PopHuman
• dc.title PopHuman: the human population genomics browserca
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion