据日本共同社报道，日本理化学研究所基因组医科学研究中心日前通过新一代DNA测序仪成功绘制出首份日本人基因组图谱。该成果24日发表在美国Nature Genetics杂志网络版上。
DNA一共有4种碱基排列组合，人类大约有30亿对碱基对。新一代测序仪可将DNA进行极其精细的切片，对大量切片同时进行高速测序。
研究人员采用美国illumina公司的仪器，从一名日本男性的血液中提取DNA，用时约5个月绘制出了基因组图谱。据悉，2003年完成的首个人体基因组图谱耗时长达10年以上，而使用最新仪器只需1到2周就可完成。
研究共找出约313万处因人而异的碱基，新发现了国际基因研究项目绘制出的基因组图谱中所没有的约300万个碱基对。
项目组组长角田达彦表示“只有一个人还看不出日本人的特征，如果能绘制出数十人的基因组图谱，这一特征就应该会显现出来”。
英文摘要：
Nature Genetics | doi:10.1038/ng.691
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing
Akihiro Fujimoto1,2, Hidewaki Nakagawa1, Naoya Hosono1, Kaoru Nakano1, Tetsuo Abe1, Keith A Boroevich1, Masao Nagasaki3, Rui Yamaguchi3, Tetsuo Shibuya3, Michiaki Kubo1, Satoru Miyano2,3, Yusuke Nakamura1,3 " Tatsuhiko Tsunoda1,2
We report the analysis of a Japanese male using high-throughput sequencing to ×40 coverage. More than 99% of the sequence reads were mapped to the reference human genome. Using a Bayesian decision method, we identified 3,132,608 single nucleotide variations (SNVs). Comparison with six previously reported genomes revealed an excess of singleton nonsense and nonsynonymous SNVs, as well as singleton SNVs in conserved non-coding regions. We also identified 5,319 deletions smaller than 10 kb with high accuracy, in addition to copy number variations and rearrangements. De novo assembly of the unmapped sequence reads generated around 3 Mb of novel sequence, which showed high similarity to non-reference human genomes and the human herpesvirus 4 genome. Our analysis suggests that considerable variation remains undiscovered in the human genome and that whole-genome sequencing is an invaluable tool for obtaining a complete understanding of human genetic variation.
