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Title: From syndrome families to functional genomics
Author(s): Brunner, H.G. ; Driel, M.A. van
Publication year: 2004
Source: Nature Reviews Genetics, vol. 5, iss. 7, (2004), pp. 545-551
ISSN: 1471-0056
DOI: https://doi.org/10.1038/nrg1383
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/58445   http://hdl.handle.net/2066/58445

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Subject: Bioinformatics
Organization: Human Genetics
Bioinformatics
Journal title:
Nature Reviews Genetics
Volume: vol. 5
Issue: iss. 7
Page start: p. 545
Page end: p. 551
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.

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