title: OSIRIS: a tool for retrieving literature about sequence variants.
abstract: Sequence variants, in particular single nucleotide polymorphisms (SNPs), are key elements for the identification of genes associated with complex diseases and with particular drug responses. The search for literature about sequence variation is hampered by the large number of allelic variants reported for many genes and by the variability in both gene and sequence variants nomenclatures. We describe OSIRIS, a search tool that integrates different sources of information with the aim to retrieve literature about sequence variation of a gene. In addition, it provides a method to link a dbSNP entry with the articles referring to it.
  
  
  BACKGROUND
  OSIRIS is available for public use at http://ibi.imim.es/
authors.affiliation: Research Unit on Biomedical Informatics (GRIB), IMIM Universitat Pompeu Fabra, carrer Dr Aiguader 88, E-08003 Barcelona, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: Bonis
authors.forename: Laura Inés
authors.initials: LI
authors.lastname: Furlong
authors.forename: Ferran
authors.initials: F
authors.lastname: Sanz
mesh_terms: D000043:Abstracting and Indexing / Q000379:methods; D001483:Base Sequence; D003628:Database Management Systems; D014644:Genetic Variation / Q000235:genetics*; D016247:Information Storage and Retrieval / Q000379:methods*; D008969:Molecular Sequence Data; D009323:Natural Language Processing; D010506:Periodicals as Topic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D039781:PubMed; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software; D018875:Vocabulary, Controlled