Perspectives
Nature Reviews Genetics 5, 545-551 (July 2004) | doi:10.1038/nrg1383
Opinion: From syndrome families to functional genomics
Han G. Brunner1 & Marc A. van Driel2 About the authors
Abstract
There are more than 2,000 monogenic syndromes in man. Each syndrome has a specific combination of phenotypic features, and each differs from other syndromes by only one or a few of those features. Could the ordering of phenotypes into syndrome families tell us about the relationships of the underlying genes? If so, such phenotype relationships could be systematically exploited to find new disease genes and provide clues to gene interactions, pathways and functions.
Author affiliations
- Han G. Brunner is at the Department of Human Genetics, University Hospital, University of Nijmegen, Geert Grooteplein 20, 6525GA Nijmegen, The Netherlands.
- Marc A. van Driel is at the Centre for Molecular and Biomolecular Informatics, University of Nijmegen, Geert Grooteplein 20, 6525GA Nijmegen, The Netherlands.
Correspondence to: Han G. Brunner1 Email: h.brunner@antrg.umcn.nl
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