title: Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations.
abstract: Biomedical literature provides a rich but unstructured source of associations between chromosomal regions and biomedical concepts. By mining MEDLINE abstracts, we annotate the human genome at the level of cytogenetic bands. Our method creates a set of chromosomal aberration maps that associate cytogenetic bands to biomedical concepts from a variety of controlled vocabularies, including disease, dysmorphology, anatomy, development and Gene Ontology branches. The association between a band (e.g. 4p16.3) and a concept (e.g. microcephaly) is assessed by the statistical overrepresentation of this concept in the abstracts relating to this band. Our method is validated using existing genome annotation resources and known chromosomal aberration maps and is further illustrated through a case study on heart disease. Our chromosomal aberration maps provide diagnostics support to clinical geneticists, aid cytogeneticists to interpret and report cytogenetic findings and support researchers interested in human gene function. The method is available as a web application, aBandApart, at http://www.esat.kuleuven.be/abandapart/.
authors.affiliation: Department of Electrotechnical Engineering, Katholieke Universiteit Leuven, Kasteelpark Arenberg 10, B-3001 Heverlee, Belgium. steven.vanvooren@esat.kuleuven.be
authors.forename: Steven
authors.initials: S
authors.lastname: Van Vooren
authors.forename: Bernard
authors.initials: B
authors.lastname: Thienpont
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
authors.forename: Frank
authors.initials: F
authors.lastname: Speleman
authors.forename: Bart
authors.initials: B
authors.lastname: De Moor
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
authors.forename: Yves
authors.initials: Y
authors.lastname: Moreau
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D000013:Congenital Abnormalities / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006331:Heart Diseases / Q000235:genetics; D006801:Humans; D020407:Internet; D016239:MEDLINE; D012984:Software; D018875:Vocabulary, Controlled