Association of genes to genetically inherited diseases using data mining
Association of genes to genetically inherited diseases using data mining
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DOI：
10.1038/ng895
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发表时间：
2002-07-01
期刊：
影响因子：
30.8
通讯作者：
Andrade, MA
中科院分区：
文献类型：
--
作者：
Perez-Iratxeta, C;Bork, P;Andrade, MA
虽然目前在各自的数据库（LocusLink（1），OMIM 2）中记录的大约4，000种遗传性疾病中有大约四分之一已经与人类基因组的某个区域相关联，但大约450种没有已知的相关基因。发现疾病相关基因需要对数百个可能的候选基因进行艰苦的检查（有时，这些基因甚至没有注释;例如，参见参考文献3，4）。人类基因组草图序列的公开可用性促进了新的策略，以将基因产物的分子功能特征映射到复杂的表型描述，例如遗传性遗传疾病。由于最近的进展，在系统注释的基因使用控制词汇表6，我们已经开发了一个评分系统的可能的功能关系的人类基因455遗传性遗传疾病，已被映射到染色体区域没有分配一个特定的基因。在具有100个已知疾病相关基因的系统的基准中，疾病相关基因以25%的机会在8个最佳得分基因中，并且以50%的机会在最佳30个基因中，这表明基因的得分与其与特定疾病相关的可能性之间存在关系。评分还表明，对于某些疾病，识别潜在基因的机会更高。
Although approximately one-quarter of the roughly 4,000 genetically inherited diseases currently recorded in respective databases (LocusLink(1), OMIM2) 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(5) draft sequence has fostered new strategies to map molecular functional features of gene products to complex phenotypic descriptions, such as those of genetically inherited diseases. Owing to recent progress in the systematic annotation of genes using controlled vocabularies 6, we have developed a scoring system for the possible functional relationships of human genes to 455 genetically inherited diseases that have been mapped to chromosomal regions without assignment of a particular gene. In a benchmark of the system with 100 known disease-associated genes, the disease-associated gene was among the 8 best-scoring genes with a 25% chance, and among the best 30 genes with a 50% chance, showing that there is a relationship between the score of a gene and its likelihood of being associated with a particular disease. The scoring also indicates that for some diseases, the chance of identifying the underlying gene is higher.