Web of Science: 20 citations, Scopus: 24 citations, Google Scholar: citations,
InvFEST, a database integrating information of polymorphic inversions in the human genome
Martínez Fundichely, Alexander (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Casillas Viladerrams, Sònia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Egea Sánchez, Raquel (Universitat Autònoma de Barcelona. Departament de Genètica i Microbiologia)
Ràmia Jesús, Miquel (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Barbadilla Prados, Antonio (Universitat Autònoma de Barcelona. Departament de Genètica i Microbiologia)
Pantano, Lorena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Puig Font, Marta (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")

Date: 2013
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 (), 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.
Note: Número d'acord de subvenció EC/FP7/243212
Note: Número d'acord de subvenció MICINN/BFU2009-09504
Note: Número d'acord de subvenció MICINN/BFU2007-60930
Rights: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Language: Anglès.
Document: article ; recerca ; publishedVersion
Published in: Nucleic acids research, Vol. 42 (2014) , art. D1027-D1032, ISSN 1362-4962

PMID: 24253300
DOI: 10.1093/nar/gkt1122


6 p, 2.9 MB

The record appears in these collections:
Articles > Research articles
Articles > Published articles

 Record created 2018-01-27, last modified 2019-05-22



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