López-Bigas Núria, Ouzounis Christos A
Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK.
Nucleic Acids Res. 2004 Jun 4;32(10):3108-14. doi: 10.1093/nar/gkh605. Print 2004.
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.
对已知与遗传疾病相关的蛋白质组进行序列分析,能够检测出该蛋白质组中共同具有的关键显著特征。与所有人类蛋白质相比,疾病相关蛋白质的特征在于其氨基酸序列更长、系统发育范围更广,以及具有特定的保守性和旁系同源性图谱。这种独特的特性模式为深入了解遗传疾病的整体性质提供了线索,而且还可用于预测新的疾病基因。我们开发了一种计算方法,能够在人类基因组中检测可能与遗传疾病相关的基因。人类基因组的概率得分分配可在http://maine.ebi.ac.uk:8000/services/dgp获取。