title: HCAD, closing the gap between breakpoints and genes.
abstract: Recurrent chromosome aberrations are an important resource when associating human pathologies to specific genes. However, for technical reasons a large number of chromosome breakpoints are defined only at the level of cytobands and many of the genes involved remain unidentified. We developed a web-based information system that mines the scientific literature and generates textual and comprehensive information on all human breakpoints. We show that the statistical analysis of this textual information and its combination with genomic data can identify genes directly involved in DNA rearrangements. The Human Chromosome Aberration Database (HCAD) is publicly accessible at http://www.pdg.cnb.uam.es/UniPub/HCAD/.
authors.affiliation: National Center of Biotechnology, CNB-CSIC, Campus de la UAM, Cantoblanco, Madrid 28049, Spain. hoffmann@cnb.uam.es
authors.forename: Robert
authors.initials: R
authors.lastname: Hoffmann
authors.forename: Joaquin
authors.initials: J
authors.lastname: Dopazo
authors.forename: Juan C
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: Alfonso
authors.initials: A
authors.lastname: Valencia
mesh_terms: D019457:Chromosome Breakage; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D030541:Databases, Genetic; D005796:Genes; D020022:Genetic Predisposition to Disease; D006801:Humans; D039781:PubMed; D018511:Systems Integration