海量基因组变异数据管理关键技术研究

基因组变异对于基因组进化、群体遗传学分析、疾病易感或致病基因的发现、个体化诊断与治疗等方面的研究有着重要的意义，海量基因组变异数据的出现为生命科学研究以及现代医疗提供了空前的发展机遇。为了有效应对爆炸式增长的基因组变异数据分析解读的现实需求，迫切需要研究面向海量基因组变异数据的大数据管理方法，提供高效的存储管理和智能化检索服务的能力。.本项目针对海量基因组变异数据难以管理、生物医学知识智能化分析不足的问题，重点研究海量基因组变异数据映射存储方法以及基于MapReduce的海量基因组变异数据查询方法，在此基础上给出基于生物医学本体的海量基因组变异数据语义查询解决方案。本项目的实施将为生物医学大数据智能化分析管理体系的建立奠定坚实的理论基础，同时也将为精准医疗提供强有力的技术支持。

Genomic variation has a great effect on evolution, population genetics, discovery of new disease causal or associated genes, personalized diagnosis and treatment, etc. The emergence of massive genomic variation data offers a marvelous opportunity for the life science research and modern medicine. In order to satisfy the urgent need of the genomic variation analysis in big data era, there is an urgent need for the theories and techniques of massive genomic variation data management which supports efficient storage and intelligent retrieval. .In view of lacking effective methods for large-scale genomic variation data management and intelligent analysis of biomedical knowledge, in this project, approaches for massive genomic variation data storage, schema mapping and queries based on MapReduce models are investigated. On this basis, solutions for ontology-based semantic queries over large-scale genomic variation data are provided. The implementation of this project will lay a foundation for intelligent managements of big biodata, and provide technical supports for the development of precision medicine.