From syndrome families to functional genomics

被引：140

作者：

Brunner, HG

van Driel, MA

机构：

[1] Univ Nijmegen, Univ Hosp, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

[2] Univ Nijmegen, Ctr Mol & Biomol Informat, NL-6525 GA Nijmegen, Netherlands

来源：

NATURE REVIEWS GENETICS | 2004年 / 5卷 / 07期

关键词：

D O I：

10.1038/nrg1383

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：545 / 551

页数：7

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