Association of genes to genetically inherited diseases using data mining

@article{PerezIratxeta2002AssociationOG,
  title={Association of genes to genetically inherited diseases using data mining},
  author={Carolina Perez-Iratxeta and Peer Bork and Miguel Andrade},
  journal={Nature Genetics},
  year={2002},
  volume={31},
  pages={316-319}
}
Although approximately one-quarter of the roughly 4,000 genetically inherited diseases currently recorded in respective databases (LocusLink, OMIM) are already linked to a region of the human genome, about 450 have no known associated gene. Finding disease-related genes requires laborious examination of hundreds of possible candidate genes (sometimes, these are not even annotated; see, for example, refs 3,4). The public availability of the human genome draft sequence has fostered new strategies… 
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386 Citations

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Highly consistent patterns for inherited human diseases at the molecular level

A comparative analysis of genes reported to cause inherited diseases in humans in terms of their causative effects on physiology, their genetics and inheritance modes, the functional processes they are involved in and their expression profiles across a wide spectrum of tissues reveals that there are more extensive correlations between these attributes of genetic disease genes than previously appreciated.

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