title: InvFEST, a database integrating information of polymorphic inversions in the human genome.
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.
authors.affiliation: Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain, Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain and Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
authors.forename: Alexander
authors.initials: A
authors.lastname: Martínez-Fundichely
authors.forename: Sònia
authors.initials: S
authors.lastname: Casillas
authors.forename: Raquel
authors.initials: R
authors.lastname: Egea
authors.forename: Miquel
authors.initials: M
authors.lastname: Ràmia
authors.forename: Antonio
authors.initials: A
authors.lastname: Barbadilla
authors.forename: Lorena
authors.initials: L
authors.lastname: Pantano
authors.forename: Marta
authors.initials: M
authors.lastname: Puig
authors.forename: Mario
authors.initials: M
authors.lastname: Cáceres
mesh_terms: D056905:Chromosome Breakpoints; D007446:Chromosome Inversion; D030561:Databases, Nucleic Acid; D015894:Genome, Human; D006801:Humans; D020407:Internet; D011110:Polymorphism, Genetic; D056916:Segmental Duplications, Genomic; D057345:Sequence Inversion; D018511:Systems Integration