今年6月14日，由复旦大学等26家单位联合组建的中国人群泛基因组联盟（CPC）发布了一期研究进展，以《基于36个族群的中国人泛基因组参考图谱》（A Pangenome Reference of 36 Chinese populations）为题发表于《自然》主刊。![]()
研究的价值和亮点有很多。首先，这是首次由中国学者领导的、自主独立完成的人群基因组研究。其次，研究团队初步构建了首个中国人群专属的泛基因组参考图谱，为破译中国人群基因密码奠定基础。最后，这次研究也推动了人类参考基因组从 “线性一维序列” 到 “泛基因组多维图谱” 的跨越。
针对研究的质疑也有不少，主要是基于对中国人群专属遗传信息泄露和基因武器的担忧。但需要说明的是，该研究的发表获得了我国国家科技部的批准（许可号2022BAT2392）。
Human genomics is witnessing an ongoing paradigm shift from a single reference sequence to a pangenome form, but populations of Asian ancestry are underrepresented.人类基因组学正见证着持续的模式转变：从单一参考序列向泛基因组形式的转变，但对亚裔人群的代表性存在不足。Here we present data from the first phase of the Chinese Pangenome Consortium, including a collection of 116 high-quality and haplotype-phased de novo assemblies based on 58 core samples representing 36 minority Chinese ethnic groups.在本文中，我们提供了来自中国泛基因组联盟第一阶段的数据，包括基于代表中国36个少数民族的58个核心样本的116个高质量的单倍型新基因组组装。With an average 30.65× high-fidelity long-read sequence coverage, an average contiguity N50 of more than 35.63 megabases and an average total size of 3.01 gigabases, the CPC core assemblies add 189 million base pairs of euchromatic polymorphic sequences and 1,367 protein-coding gene duplications to GRCh38.CPC核心的基因组组装平均具有30.65X高保真、长读长序列覆盖率，平均邻接N50超过35.63兆碱基，平均总大小为3.01千兆碱基，为GRCh38增加了1.89亿碱基对的常染色体多态序列和1,367个蛋白质编码基因重复。We identified 15.9 million small variants and 78,072 structural variants, of which 5.9 million small variants and 34,223 structural variants were not reported in a recently released pangenome reference.我们发现了1,590万个小变异体和78,072个结构变异体，其中590万个小变异体和34,223个结构变异体未在最近发表的泛基因组参考序列（PMID: 3716524）研究中报道。The Chinese Pangenome Consortium data demonstrate a remarkable increase in the discovery of novel and missing sequences when individuals are included from underrepresented minority ethnic groups.中国泛基因组联盟的数据表明，当个体来自少数民族时，发现的新序列和缺失序列显著增加。The missing reference sequences were enriched with archaic-derived alleles and genes that confer essential functions related to keratinization, response to ultraviolet radiation, DNA repair, immunological responses and lifespan, implying great potential for shedding new light on human evolution and recovering missing heritability in complex disease mapping.缺失的参考序列中富集了源自古代的等位基因和基因，这些基因具有与角化、紫外线辐射反应、DNA修复、免疫反应和寿命相关的重要功能，这对在复杂的疾病图谱中揭示人类进化和恢复缺失的遗传性显现出巨大的潜力。
[1]Gao Y, Yang X, Chen H, et al. A pangenome reference of 36 Chinese populations. Nature. 2023;619(7968):112-121. doi:10.1038/s41586-023-06173-7.
