InvFEST, a database integrating information of polymorphic inversions in the human genome

Alexander Martínez-Fundichely, Sònia Casillas, Raquel Egea, Miquel Ràmia, Antonio Barbadilla, Lorena Pantano, Marta Puig, Mario Cáceres

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Resum

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.

Idioma originalEnglish
Pàgines (de-a)D1027-D1032
Nombre de pàgines6
RevistaNucleic Acids Research
Volum42
NúmeroD1
DOIs
Estat de la publicacióPublicada - 1 de gen. 2014

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