The Study on Human Genome diversity

与桑格测序相比，新一代测序具有成本更低、通量更高的优点。为了了解个人基因组中的所有遗传变异，我们使用GAIIx测序仪对从人类细胞系和来自HapMap JPT（日本）集的样品分离的两条染色体（HSA21和HSAY）进行了重测序。在日本男性基因组中，我们以平均30倍的覆盖率鉴定了超过300万个序列变异（snv）。此外，不仅可以检测到snv，还可以检测到结构变体，如索引和拷贝数变体。

Next generation sequencing offers lower cost and higher throughput than Sanger sequencing for human personal genome. To understand all genetic variants within personal genome, we carried out re-sequencing of two chromosomes(HSA21 and HSAY) separated from a human cell line and a sample from the HapMap JPT(Japanese) sets using the GAIIx sequencers. In a Japanese male genome, we identified over 3 million sequence variants(SNVs) at an average of 30-fold coverage. In addition, not only SNVs but also structural variants, such as indels and copy number variants, were detected.