Open Access

From genes to disease

  • Jonathan B Weitzman
Genome Biology20023:spotlight-20020515-01

DOI: 10.1186/gb-spotlight-20020515-01

Published: 15 May 2002

Only a small fraction of the thousands of described genetically inherited diseases have been linked to a specific gene. In an Advanced Online Publication in Nature Genetics Carolina Perez-Iratxeta and colleagues at the EMBL in Heidelberg describe using a bioinformatics approach to link genes to diseases (13 May 2002, DOI:10.1038/ng895). Their data-mining system is based on 'fuzzy set theory', which can make inferences from the complex scientific literature. They integrated information from multiple databases to establish relationships between Medical Subject Headings (MeSH terms) related to diseases, or drugs, and Gene Ontology terms. After a series of computational steps they defined a 'core' for known genes in the RefSeq database. They then used the score to rank candidate genes in a given disease-associated region. When this approach was tested against known disease-linked genes, the score could predict promising candidate genes. This type of strategy may be useful for prioritising disease-associated candidates at a given disease locus.

References

  1. Online Mendelian Inheritance in Man, [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=OMIM]
  2. Nature Genetics, [http://www.nature.com/ng/]
  3. European Molecular Biology Laboratory , [http://www.embl-heidelberg.de]
  4. Fuzzy logic and control: principal approach and potential applications in medicine.
  5. Gene ontology: tool for the unification of biology.
  6. NCBI Reference Sequences, [http://www.ncbi.nlm.nih.gov:80/locuslink/refseq.html]
  7. G2D, [http://www.bork.embl-heidelberg.de/g2d]

Copyright

© BioMed Central Ltd 2002

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