Research DB

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  • CV-DISEASE: A collection of annotated genomic variants, identified by deep sequencing technology, within over 200 genes potentially involved in human cardiomyopathies.

  • CFTR: A database developed in a study in collaboration with the laboratory of G. Castaldo, which contains novel mutations found within highly conserved intronic sequences of the human CFTR gene, to test their involvement in the pathogenesis of the cystic fibrosis phenotype.

  • KINWEB: A collection of protein kinases encoded in the human genome.
The website provides:
  • a comprehensive analysis of functional domains of each gene product;
  • a prediction of secondary and tertiary structure motifs by using machine learning based programs;
  • a collection of conserved sequence elements identified by comparative analysis of human kinase genes and their murine counterparts, useful to the identification of additional coding sequences, such as alternatively spliced exons, or other regulatory elements.

  • DG-CST: The DG-CST database is a collection of conserved sequence elements, identified by a systematic genomic sequence comparison between a set of human genes involved in the pathogenesis of genetic disorders and their murine counterparts.

  • EYEDIS: A database developed within a project for the analysis of a population of patients affected by Age-related Macular Degeneration (AMD).

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