Mottaz Anaïs, Yip Yum L, Ruch Patrick, Veuthey Anne-Lise
Swiss-Prot Group, Swiss Institute of Bioinformatics, 1211 Genève 4, Switzerland.
BMC Bioinformatics. 2008 Apr 29;9 Suppl 5(Suppl 5):S3. doi: 10.1186/1471-2105-9-S5-S3.
Although the UniProt KnowledgeBase is not a medical-oriented database, it contains information on more than 2,000 human proteins involved in pathologies. However, these annotations are not standardized, which impairs the interoperability between biological and clinical resources. In order to make these data easily accessible to clinical researchers, we have developed a procedure to link diseases described in the UniProtKB/Swiss-Prot entries to the MeSH disease terminology.
We mapped disease names extracted either from the UniProtKB/Swiss-Prot entry comment lines or from the corresponding OMIM entry to the MeSH. Different methods were assessed on a benchmark set of 200 disease names manually mapped to MeSH terms. The performance of the retained procedure in term of precision and recall was 86% and 64% respectively. Using the same procedure, more than 3,000 disease names in Swiss-Prot were mapped to MeSH with comparable efficiency.
This study is a first attempt to link proteins in UniProtKB to the medical resources. The indexing we provided will help clinicians and researchers navigate from diseases to genes and from genes to diseases in an efficient way. The mapping is available at: http://research.isb-sib.ch/unimed.
虽然通用蛋白质组学知识库(UniProt KnowledgeBase)并非面向医学的数据库,但它包含了有关2000多种与疾病相关的人类蛋白质的信息。然而,这些注释并不标准化,这削弱了生物资源与临床资源之间的互操作性。为了使临床研究人员能够轻松获取这些数据,我们开发了一种程序,将UniProtKB/Swiss-Prot条目中描述的疾病与医学主题词表(MeSH)疾病术语相链接。
我们将从UniProtKB/Swiss-Prot条目注释行或相应的在线人类孟德尔遗传(OMIM)条目中提取的疾病名称映射到MeSH。在一组200个已手动映射到MeSH术语的疾病名称基准集上评估了不同的方法。所保留程序在精确率和召回率方面的性能分别为86%和64%。使用相同的程序,Swiss-Prot中的3000多个疾病名称以相当的效率映射到了MeSH。
本研究是将UniProtKB中的蛋白质与医学资源相链接的首次尝试。我们提供的索引将帮助临床医生和研究人员以高效的方式从疾病导航到基因以及从基因导航到疾病。该映射可在以下网址获取:http://research.isb-sib.ch/unimed 。