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Published online 4 June 2004

Nucleic Acids Research, 2004, Vol. 32, No. 10 3108-3114
© 2004 Oxford University Press

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

Núria López-Bigas and Christos A. Ouzounis*

Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK

*To whom correspondence should be addressed. Tel: +44 1223 494653; Fax: +44 1223 494471; Email: ouzounis{at}ebi.ac.uk

Received March 8, 2004; Revised and Accepted April 21, 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. ac.uk:8000/services/dgp.


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