A pangenome reference of 36 Chinese populations

	A pangenome reference of 36 Chinese populations
	Gao, Y; Yang, XF; Chen, H; Tan, XJ; Yang, ZQ; Deng, L; Wang, BN; Kong, S; Li, SY; Cui, YH; Lei, C; Wang, YM; Pan, YW; Ma, S; Sun, H; Zhao, XH; Shi, YB; Yang, ZY; Wu, DD; Wu, SY; Zhao, XM; Shi, BY; Jin, L; Hu, ZB; Lu, Y; Chu, JY; Ye, K; Xu, SH
	2023
发表期刊	NATURE
ISSN	0028-0836
卷号	619 期号:7968 页码:112-134
摘要	Human genomics is witnessing an ongoing paradigm shift from a single reference sequence to a pangenome form, but populations of Asian ancestry are underrepresented. 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. With an average 30.65x 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. 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(1). 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. 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.
收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/14062
专题	科研部门_进化与发育转录组学（吴东东）
推荐引用方式 GB/T 7714	Gao, Y,Yang, XF,Chen, H,et al. A pangenome reference of 36 Chinese populations[J]. NATURE,2023,619(7968):112-134.
APA	Gao, Y.,Yang, XF.,Chen, H.,Tan, XJ.,Yang, ZQ.,...&Xu, SH.(2023).A pangenome reference of 36 Chinese populations.NATURE,619(7968),112-134.
MLA	Gao, Y,et al."A pangenome reference of 36 Chinese populations".NATURE 619.7968(2023):112-134.

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