Database tools in genetic diseases research

Anna Monica Bianco, Annalisa Marcuzzi, Valentina Zanin, Martina Girardelli, Josef Vuch, Sergio Crovella

Research output: Contribution to journalArticlepeer-review


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 inwhich the causal genes are difficult to identify.

Original languageEnglish
Pages (from-to)75-85
Number of pages11
Issue number2
Publication statusPublished - 2013


  • Ensembl
  • Genetic diseases
  • GWAS
  • IBD
  • Mutation
  • NCBI
  • SNPs

ASJC Scopus subject areas

  • Genetics
  • Medicine(all)


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