基于本体的临床基因组学信息整合研究

Ontology-based integration of clinical Genomics information

目的由于生物医学信息存在一定的异质性,实现这些信息的整合将促进基因医学的发展。方法通过构建生物医学信息领域本体,将数据源的数据模式映射到一个虚拟模式之下,再统一这些虚拟模式;并结合生物医学术语本体,以期解决信息整合过程中所产生的语义问题。结果利用构建的临床基因组学信息系统可提升微阵列数据分析结果。结论基于本体的信息整合将为对未来的临床基因组学研究提供有力的信息支持。

Aim To integrate biomedical information and facilitate the development of gene medicine,while these data sets are large and highly heterogeneous. Methods To resolve the semantics problem on the process of data integration,a domain ontology on the biomedical field was created meanwhile the biomedical terminologies were introduced. Two processes were necessary- mapping and unification. Mapping used ontologies to link a data source schema with a virtual schema,then unification was proceeded to merge the virtual schemas. Result The application of clinical genomies information system was demonstrated to improve the analyze result of microarray data. Conclusion The advance of ontology-based information integration would improve the future application of clinical genomics.