Journal
GENOMICS
Volume 101, Issue 2, Pages 75-85Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2012.11.001
Keywords
Genetic diseases; Mutation; NCBI; Ensembl; SNPs; GWAS; IBD
Funding
- Institute for Maternal and Child Health IRCCS Burlo Garofolo, Italy [RC 40/2011]
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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. (C) 2012 Elsevier Inc. All rights reserved.
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