InvFEST, a database integrating information of polymorphic inversions in the human genome
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- dc.contributor.author Martínez Fundichely, Alexander, 1978-ca
- dc.contributor.author Casillas, Sòniaca
- dc.contributor.author Egea, Raquelca
- dc.contributor.author Ràmia, Miquelca
- dc.contributor.author Barbadilla, Antonioca
- dc.contributor.author Pantano Rubiño, Lorena, 1982-ca
- dc.contributor.author Puig, Martaca
- dc.contributor.author Cáceres Aguilar, Marioca
- dc.date.accessioned 2015-07-24T10:10:18Z
- dc.date.available 2015-07-24T10:10:18Z
- dc.date.issued 2014ca
- dc.description.abstract The newest genomic advances have uncovered an unprecedented degree of structural variation throughout genomes, with great amounts of data accumulating rapidly. Here we introduce InvFEST (http://invfestdb.uab.cat), a database combining multiple sources of information to generate a complete catalogue of non-redundant human polymorphic inversions. Due to the complexity of this type of changes and the underlying high false-positive discovery rate, it is necessary to integrate all the available data to get a reliable estimate of the real number of inversions. InvFEST automatically merges predictions into different inversions, refines the breakpoint locations, and finds associations with genes and segmental duplications. In addition, it includes data on experimental validation, population frequency, functional effects and evolutionary history. All this information is readily accessible through a complete and user-friendly web report for each inversion. In its current version, InvFEST combines information from 34 different studies and contains 1092 candidate inversions, which are categorized based on internal scores and manual curation. Therefore, InvFEST aims to represent the most reliable set of human inversions and become a central repository to share information, guide future studies and contribute to the analysis of the functional and evolutionary impact of inversions on the human genome.
- dc.description.sponsorship This work was supported by The European Research Council under the European Union Seventh Research Framework Programme [Starting Grant 243212 (INVFEST) to M.C.]; Ministerio de Asuntos Exteriores y Cooperación (Spain) [MAECAECI doctoral fellowship to A.M.F.]; Ministerio de Ciencia e Innovación (Spain) [BFU2007-60930 to M.C. and BFU2009-09504 to A.B.]. Funding for open access/ncharge: European Research Council
- dc.format.mimetype application/pdfca
- dc.identifier.citation Martínez-Fundichely A, Casillas S, Egea R, Ràmia M, Barbadilla A, Pantano L et al. InvFEST, a database integrating information of polymorphic/ninversions in the human genome. Nucleic Acids Res. 2014 Jan;42(Database/nissue):D1027-32. DOI: 10.1093/nar/gkt1122ca
- dc.identifier.doi http://dx.doi.org/10.1093/nar/gkt1122
- dc.identifier.issn 0305-1048ca
- dc.identifier.uri http://hdl.handle.net/10230/24640
- dc.language.iso engca
- dc.publisher Oxford University Pressca
- dc.relation.ispartof Nucleic Acids Research. 2014 Jan;42(Database/nissue):D1027-32
- dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/243212
- dc.relation.projectID info:eu-repo/grantAgreement/ES/2PN/BFU2007-60930
- dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2009-09504
- dc.rights © 2014 Alexander Martínez-Fundichely et al. Published by Oxford University Press. This is an Open Access article distributed under the terms of a Creative Commons Attribution Licenseca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.rights.uri http://creativecommons.org/licenses/by/3.0/
- dc.subject.other Àcids nucleics -- Bases de dades
- dc.subject.other Genoma humà
- dc.title InvFEST, a database integrating information of polymorphic inversions in the human genomeca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersionca