Genome-wide identification of genes likely to be involved in human genetic disease

Nucleic Acids Res. 2004 Jun 4;32(10):3108-14. doi: 10.1093/nar/gkh605. Print 2004.


Sequence analysis of the group of proteins known to be associated with hereditary diseases allows the detection of key distinctive features shared within this group. The disease proteins are characterized by greater length of their amino acid sequence, a broader phylogenetic extent, and specific conservation and paralogy profiles compared with all human proteins. This unique property pattern provides insights into the global nature of hereditary diseases and moreover can be used to predict novel disease genes. We have developed a computational method that allows the detection of genes likely to be involved in hereditary disease in the human genome. The probability score assignments for the human genome are accessible at http://maine.ebi.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acids / analysis
  • Animals
  • Computational Biology*
  • Conserved Sequence / genetics
  • Databases, Genetic
  • Decision Trees
  • Genetic Diseases, Inborn / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human*
  • Genomics*
  • Humans
  • Internet
  • Phylogeny
  • Probability
  • Reproducibility of Results


  • Amino Acids