中国人基因组图谱

        最近一期Nature(2008 Nov 6;456(7218):60-5.)发表了中科院和华大基因研究院杨焕明、汪建、王俊等科学家的论文——"中国人基因组图谱"(The diploid genome sequence of an Asian individual)的论文。它是我国人类基因组研究的又一杰出成果，是我国基础科学研究的重大进展，对于我国医学和生物学的发展具有极其重要和深远的指导意义。
        由于进化、环境、历史、生活、习俗、文化的不同，中华民族具有自己独特的遗传背景和种族特征。它不仅反映在肤色、身高、体态、性格、发育等表象上，也表现在疾病的发生、发展、易感性和药物反应性等重要的生物医学特征上。华大基因研究院的科学家们在短短一年多的时间里，便完成了中国人全基因组1177亿个碱基对的测定，全面阐明了中国人基因组的结构和特异性，新发现了41.7万个中国人特有的遗传多态性位点，其检测的覆盖率和准确度都达到了99.9%以上。为中国人遗传特性和种族差异做了最全面、最基础、最科学的注释，对我国医学生物学的发展，对疾病的诊断、防治、预后和药物开发等都具有无可估量的意义。将使我们能做到"YOUR LIFE IN YOUR HANDS"(本期Nature封面图案)。让我们一起向华大科学家致以诚挚的感谢和深深的祝福。
        这里我们全文摘录了Nature的论文以及其他基因组图谱相关的文献，供大家参考。

Nature. 2008 Nov 6;456(7218):60-5.

Nature论文

• The diploid genome sequence of an Asian individual

其他相关论文

• The Sequence of the Human Genome
• The Diploid Genome Sequence of an Individual Human
• The complete genome of an individual by massively parallel DNA sequencing
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• Genome-wide detection and characterization of positive selection in human populations
• The DNA sequence, annotation and analysis of human chromosome 3
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• Influenza Virus Database (IVDB): an integrated information resource and analysis platform for influenza virus research
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• ChickVD: a sequence variation database for the chicken genome
• SilkDB: a knowledgebase for silkworm biology and genomics
• A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms
• The Genomes of Oryza sativa: a history of duplications
• Complete genome sequence of Yersinia pestis strain 91001, an isolate avirulent to humans
• The mitochondrial genome of the thermal dimorphic fungus Penicillium marneffei is more closely related to those of molds than yeasts
• BGI-RIS: an integrated information resource and comparative analysis workbench for rice genomics
• A Draft Sequence for the Genome of the Domesticated Silkworm (Bombyx mori)
• A Draft Sequence of the Rice Genome (Oryza sativa L. ssp. indica)
• A comparison of rice chloroplast genomes