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中国科学院北京基因组研究所(国家生物信息中心)发展定位为:“面向我国人口健康和社会可持续发展的重大战略需求与生命科学前沿,重点研究基因组结构、变异、功能及其演化规律,加强基因组学与其他学科的交叉融合,发展基因组学的新理论、新方法和新技术,成为基因组学原始创新研究基地、创新人才培养基地和卓越科学中心,为保障人类社会的健康发展做出重大贡献”。基因组所成立以来,承担了“973”、“863”、国家自然科学基金重大项目和中科院知识创新工程等多项重大科研任务,取得了令人瞩目的成就,参与完成了国际人类基因组计划、单体型图计划;独立完成了中国超级杂交水稻基因组计划,牵头国家自然科学基金委“微进化过程中的多基因作用机制”重大研究计划和中科院中国人群精准医学研究计划等一系列重大科学项目。在肿瘤微进化、表观遗传学、精准医学、数据库建设等领域取得了突破性进展。
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