HCAD, closing the gap between breakpoints and genes

TitleHCAD, closing the gap between breakpoints and genes
Publication TypeJournal Article
Year of Publication2005
AuthorsHoffmann, R, Dopazo, J, Cigudosa, JC, Valencia, A
JournalNucleic Acids Res
Keywords*Chromosome Breakage Chromosome Disorders/diagnosis/*genetics *Databases; Genetic Genes *Genetic Predisposition to Disease Humans PubMed Systems Integration

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/.


Hoffmann, Robert Dopazo, Joaquin Cigudosa, Juan C Valencia, Alfonso Research Support, Non-U.S. Gov’t England Nucleic acids research Nucleic Acids Res. 2005 Jan 1;33(Database issue):D511-3.