title: Database tools in genetic diseases research.
abstract: The knowledge of the human genome is in continuous progression: a large number of databases have been developed to make meaningful connections among worldwide scientific discoveries. This paper reviews bioinformatics resources and database tools specialized in disseminating information regarding genetic disorders. The databases described are useful for managing sample sequences, gene expression and post-transcriptional regulation. In relation to data sets available from genome-wide association studies, we describe databases that could be the starting point for developing studies in the field of complex diseases, particularly those in which the causal genes are difficult to identify.
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy. Electronic address: bianco@burlo.trieste.it.
authors.forename: Anna Monica
authors.initials: AM
authors.lastname: Bianco
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Marcuzzi
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Zanin
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Girardelli
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy.
authors.forename: Josef
authors.initials: J
authors.lastname: Vuch
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy; University of Trieste, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D019295:Computational Biology; D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D015894:Genome, Human; D023281:Genomics; D006801:Humans