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中文摘要：
DNA序列中蕴含了控制人类生命活动的种种信息，决定了肤色、身高、体重等生物学性状，也对人类疾病与健康有着至关重要的影响。目前广泛威胁我国人民生命健康的常见重大疾病，如癌症、糖尿病、心脑血管疾病等都具有特定的遗传基础。由于进化历史、生活习俗等种种原因，中国人具有自己独特的遗传背景，在疾病易感性和药物反应方面与其他族群存在显著差异，导致许多对白种人群有效的基因诊断、药物等医学研究成果不能够应用于中国乃至亚洲人群。“炎黄1号”作为中国人参照基因组序列，从基因组学上对这些差异做出了解释，揭示了中国人自主的基因组研究与中国人的医学健康事业发展的重要关联性和必要性，对中国的基因科学研究和产业发展具有重要的指导意义。
英文摘要：
DNA, the genetic essence of human being, determines a wide range of our visible phenotypes from skin color to weight of body. It also plays critical man diseases. Top killers that are severely role in huthreatening the public health, such as diabetes, cancer and cardiovascular diseases, all have complex genetic bases. Due to the specific history and civilization, Chinese have our own unique genetic background that is significantly different from other populations, which results in different susceptibility to diseases and drug response. Diagnosis approaches and therapies that are proved to be effective in Caucasians cannot be applied to Chinese or other Asian populations. The first Asian genome will serve as a reference to elucidate the diversity among populations on genomic level. It reveals the necessity of Chinese genomics study and its importance in medical and genomics study, health care and development.
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