ArticleNature2023
A pangenome reference of 36 Chinese populations.
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Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers.
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107citing papers in PubMed
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107 citing papers in PubMed, 160 citations in OpenAlex.
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- Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.European journal of human genetics : EJHG · 2026Review
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- Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.bioRxiv : the preprint server for biology · 2026Article
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- Building and applying pangenome references to capture genetic diversity.Nature reviews. Genetics · 2026Review
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- Genome-wide associations of structural variants with human traits through imputation from long-read assemblies.Nature genetics · 2026Article
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Contrasting ancestry patterns inferred from Y chromosome and mitochondrial DNA in Nanjing people from southwestern China.Human genetics · 2026Article
- Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur.Human genetics · 2026Article
- A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA.Nature communications · 2026Article
- A LINE-1 insertion upstream of FOXP2 promotes neuronal differentiation during primate evolution.Genome biology · 2026Article
- A new phased assembly of the Antarctic spiny plunderfish provides novel insights into the evolution of the notothenioid radiation.bioRxiv : the preprint server for biology · 2026Article
- Management discussion of laws and regulations on human genetic resources in China: a scoping review.BMC medical ethics · 2026Article
47 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 13 institutions in 2 countries.
Yang Gao *State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0001-7057-1413
Xiaofei Yang *School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Hao Chen *Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Xinjiang Tan *Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID 0000-0001-6489-1816
Zhaoqing Yang *Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences, Kunming, China.
Lian Deng *State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.
Baonan WangMinistry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai, China.
Shuang KongMinistry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai, China.
Songyang LiMinistry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai, China.
Yuhang CuiMinistry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai, China.ORCID 0009-0008-9090-990X
Chang LeiState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.
Yimin WangKey Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Yuwen PanKey Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Sen MaKey Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID 0000-0001-8183-096X
Hao SunDepartment of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences, Kunming, China.
Xiaohan ZhaoMinistry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, Fudan University, Shanghai, China.
Yingbing ShiState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0003-4495-1986
Ziyi YangState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.
Dongdong WuState Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
Shaoyuan WuJiangsu Key Laboratory of Phylogenomics & Comparative Genomics, International Joint Center of Genomics of Jiangsu Province School of Life Sciences, Jiangsu Normal University, Xuzhou, China.
Xingming ZhaoInstitute of Science and Technology for Brain-Inspired Intelligence, Ministry of Education Key (MOE) Laboratory of Computational Neuroscience and Brain-Inspired Intelligence, MOE Frontiers Center for Brain Science Fudan University, Shanghai, China.ORCID 0000-0002-4531-3970
Binyin ShiDepartment of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Li JinState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0001-9201-2321
Zhibin HuState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.ORCID 0000-0002-8277-5234
Chinese Pangenome Consortium (CPC)
Yan LuState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China. lueyan@fudan.edu.cn.ORCID 0000-0001-6907-0443
Jiayou ChuDepartment of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences, Kunming, China. chujy@imbcams.com.cn.ORCID 0000-0003-1391-6504
Kai YeMOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China. kaiye@xjtu.edu.cn.ORCID 0000-0002-2851-6741
Shuhua XuState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China. xushua@fudan.edu.cn.ORCID 0000-0002-1975-1002
Fudan University · CNShanghai Institute of Nutrition and Health · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNSichuan University · CNCentral South University · CNFirst Affiliated Hospital of Xi'an Jiaotong University · CNJiangsu Cancer Hospital · CNJiangsu Normal University · CNBGI Group (China) · CNKunming Institute of Zoology · CNShanghai Jiao Tong University · CNWestlake University · CNXi'an Jiaotong University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 30.65× 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. 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
Indexed as
East Asian PeopleEthnicityGenetic VariationGenome, HumanHuman GeneticsMinority GroupsAllelesDNA RepairEthnic and Racial MinoritiesEuchromatinHaplotypesHumansImmunityKeratinsLongevityReference StandardsEuchromatinKeratins
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