Abstract: Recently, "Science" magazine announced the "Top Ten Scientific Breakthroughs of 2010", which are quantum mechanics, synthetic biology, Neanderthal genome, next generation genomics, RNA reprogramming, exons Group sequencing / rare disease genes, quantum simulators, molecular dynamics simulations, rat regression and HIV prevention. Shenzhen BGI Research Institute has obtained six scientific research achievements in the "Next Generation Genomics" and "Exome Sequencing / Rare Disease Genes", highlighting BGI ’s advanced research in the field of international genomics Sex and frontier status.

Recently, "Science" magazine announced the "Top Ten Scientific Breakthroughs of 2010", which are quantum machinery, synthetic biology, Neanderthal genome, next generation genomics, RNA reprogramming, exome sequencing / Rare disease genes, quantum simulators, molecular dynamics simulations, rat regression and HIV prevention. Shenzhen BGI Research Institute has obtained six scientific research achievements in the "Next Generation Genomics" and "Exome Sequencing / Rare Disease Genes", highlighting BGI ’s advanced research in the field of international genomics Sex and frontier status.

In 2010, the BGI Institute of Shenzhen, China independently and cooperatively completed a number of world-class projects, including "the world's first ancient human genome deep sequence determination and interpretation work" historical results; "International Thousand Human Genome Project" Released the most detailed map of human gene polymorphisms to date; "Chinese whole genome DNA methylation map (Yanhuang methylation project)", another important achievement in the field of human genome research; "For 200 people Exon sequencing revealed the existence of a large number of low-frequency non-synonymous mutations ". Exomes of 200 Danish individual protein-coding genes were deeply sequenced and a large number of previously unknown single nucleotide polymorphism sites were found (SNP), most of which appear at a lower frequency in the population; "Using whole exome sequencing technology to discover the new pathogenic gene TGM6 of cerebellar ataxia", using exome sequencing technology for single gene disease A breakthrough in research is of great significance to the development of domestic research on single gene diseases; "The construction of the reference genome of the human genome ", A collection of 124 Europeans from the intestinal flora samples, using a new generation of large-scale high-throughput sequencing technology for deep sequencing, nucleotide sequence output of nearly 600 billion. After sequence assembly and gene annotation analysis, 3.3 million non-redundant human intestinal metagenome reference genes were obtained, about 150 times that of human genes.

BGI adheres to the principle of "leading disciplines, industry, and talents", and has successively completed the "Chinese part" of the international human genome project (1%), the international human haplotype project (10%), the rice genome project, and silkworm The genome project, chicken genome project, anti-SARS research, Yanhuang No.1, giant panda and many other internationally advanced genomic research work have published many papers in world-class journals such as "Nature" and "Science". This year's outstanding achievements in 12 "Nature" and "Science" papers have proved China's leading position in genomics science in the world.

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