Genome-wide identification of genes likely to be involved in human genetic disease
Genome-wide identification of genes likely to be involved in human genetic disease
复制标题
DOI：
10.1093/nar/gkh605
复制
发表时间：
2004-06-01
影响因子：
14.9
通讯作者：
Ouzounis, CA
中科院分区：
文献类型：
--
作者：
López-Bigas, N;Ouzounis, CA
已知与遗传性疾病相关的蛋白质组的序列分析允许检测该组中共有的关键独特特征。与所有人类蛋白相比，该疾病蛋白的特征是其氨基酸序列的长度更长，系统发育程度更广泛，特异性保守和催化谱。这种独特的特性模式提供了对遗传性疾病全球性质的见解，此外，可以用于预测新型疾病基因。我们开发了一种计算方法，该方法允许检测可能参与人类基因组中遗传疾病的基因。人类基因组的概率得分分配可在http：//maine.ebi上访问。 ac.uk:8000/services/dgp。
Sequence analysis of the group of proteins known to be associated with hereditary diseases allows the detection of key distinctive features shared within this group. The disease proteins are characterized by greater length of their amino acid sequence, a broader phylogenetic extent, and specific conservation and paralogy profiles compared with all human proteins. This unique property pattern provides insights into the global nature of hereditary diseases and moreover can be used to predict novel disease genes. We have developed a computational method that allows the detection of genes likely to be involved in hereditary disease in the human genome. The probability score assignments for the human genome are accessible at http://maine.ebi. ac.uk:8000/services/dgp.