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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project

Author

Listed:
  • Pei-Kuan Cong

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Wei-Yang Bai

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Jin-Chen Li

    (Xiangya Hospital, Central South University
    Central South University
    Central South University)

  • Meng-Yuan Yang

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Saber Khederzadeh

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Si-Rui Gai

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Nan Li

    (Westlake University)

  • Yu-Heng Liu

    (Westlake University)

  • Shi-Hui Yu

    (KingMed Diagnostics, Co., Ltd.)

  • Wei-Wei Zhao

    (KingMed Diagnostics, Co., Ltd.)

  • Jun-Quan Liu

    (KingMed Diagnostics, Co., Ltd.)

  • Yi Sun

    (KingMed Diagnostics, Co., Ltd.)

  • Xiao-Wei Zhu

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Pian-Pian Zhao

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Jiang-Wei Xia

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Peng-Lin Guan

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Yu Qian

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Jian-Guo Tao

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

  • Lin Xu

    (Binzhou Medical University)

  • Geng Tian

    (Binzhou Medical University)

  • Ping-Yu Wang

    (Binzhou Medical University)

  • Shu-Yang Xie

    (Binzhou Medical University)

  • Mo-Chang Qiu

    (Jiangxi Medical College)

  • Ke-Qi Liu

    (Jiangxi Medical College)

  • Bei-Sha Tang

    (Xiangya Hospital, Central South University
    Central South University)

  • Hou-Feng Zheng

    (Westlake University
    Westlake Laboratory of Life Sciences and Biomedicine
    Westlake Institute for Advanced Study)

Abstract

We initiate the Westlake BioBank for Chinese (WBBC) pilot project with 4,535 whole-genome sequencing (WGS) individuals and 5,841 high-density genotyping individuals, and identify 81.5 million SNPs and INDELs, of which 38.5% are absent in dbSNP Build 151. We provide a population-specific reference panel and an online imputation server ( https://wbbc.westlake.edu.cn/ ) which could yield substantial improvement of imputation performance in Chinese population, especially for low-frequency and rare variants. By analyzing the singleton density of the WGS data, we find selection signatures in SNX29, DNAH1 and WDR1 genes, and the derived alleles of the alcohol metabolism genes (ADH1A and ADH1B) emerge around 7,000 years ago and tend to be more common from 4,000 years ago in East Asia. Genetic evidence supports the corresponding geographical boundaries of the Qinling-Huaihe Line and Nanling Mountains, which separate the Han Chinese into subgroups, and we reveal that North Han was more homogeneous than South Han.

Suggested Citation

  • Pei-Kuan Cong & Wei-Yang Bai & Jin-Chen Li & Meng-Yuan Yang & Saber Khederzadeh & Si-Rui Gai & Nan Li & Yu-Heng Liu & Shi-Hui Yu & Wei-Wei Zhao & Jun-Quan Liu & Yi Sun & Xiao-Wei Zhu & Pian-Pian Zhao , 2022. "Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
  • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-30526-x
    DOI: 10.1038/s41467-022-30526-x
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    as
    1. Peter Barros Damgaard & Nina Marchi & Simon Rasmussen & Michael Peyrot & Gabriel Renaud & Thorfinn Korneliussen & J. Victor Moreno-Mayar & Mikkel Winther Pedersen & Amy Goldberg & Emma Usmanova & Nurb, 2018. "Author Correction: 137 ancient human genomes from across the Eurasian steppes," Nature, Nature, vol. 563(7729), pages 16-16, November.
    2. Monkol Lek & Konrad J. Karczewski & Eric V. Minikel & Kaitlin E. Samocha & Eric Banks & Timothy Fennell & Anne H. O’Donnell-Luria & James S. Ware & Andrew J. Hill & Beryl B. Cummings & Taru Tukiainen , 2016. "Analysis of protein-coding genetic variation in 60,706 humans," Nature, Nature, vol. 536(7616), pages 285-291, August.
    3. Chuan-Chao Wang & Hui-Yuan Yeh & Alexander N. Popov & Hu-Qin Zhang & Hirofumi Matsumura & Kendra Sirak & Olivia Cheronet & Alexey Kovalev & Nadin Rohland & Alexander M. Kim & Swapan Mallick & Rebecca , 2021. "Genomic insights into the formation of human populations in East Asia," Nature, Nature, vol. 591(7850), pages 413-419, March.
    4. Rasmus Nielsen & Joshua M. Akey & Mattias Jakobsson & Jonathan K. Pritchard & Sarah Tishkoff & Eske Willerslev, 2017. "Tracing the peopling of the world through genomics," Nature, Nature, vol. 541(7637), pages 302-310, January.
    5. Jie Huang & Bryan Howie & Shane McCarthy & Yasin Memari & Klaudia Walter & Josine L. Min & Petr Danecek & Giovanni Malerba & Elisabetta Trabetti & Hou-Feng Zheng & Giovanni Gambaro & J. Brent Richards, 2015. "Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel," Nature Communications, Nature, vol. 6(1), pages 1-9, November.
    6. Gil McVean, 2009. "A Genealogical Interpretation of Principal Components Analysis," PLOS Genetics, Public Library of Science, vol. 5(10), pages 1-10, October.
    7. Martin Sikora & Vladimir V. Pitulko & Vitor C. Sousa & Morten E. Allentoft & Lasse Vinner & Simon Rasmussen & Ashot Margaryan & Peter Damgaard & Constanza Fuente & Gabriel Renaud & Melinda A. Yang & Q, 2019. "The population history of northeastern Siberia since the Pleistocene," Nature, Nature, vol. 570(7760), pages 182-188, June.
    8. Yukinori Okada & Yukihide Momozawa & Saori Sakaue & Masahiro Kanai & Kazuyoshi Ishigaki & Masato Akiyama & Toshihiro Kishikawa & Yasumichi Arai & Takashi Sasaki & Kenjiro Kosaki & Makoto Suematsu & Ko, 2018. "Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese," Nature Communications, Nature, vol. 9(1), pages 1-10, December.
    9. Joseph K Pickrell & Jonathan K Pritchard, 2012. "Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data," PLOS Genetics, Public Library of Science, vol. 8(11), pages 1-17, November.
    10. Chao Ning & Tianjiao Li & Ke Wang & Fan Zhang & Tao Li & Xiyan Wu & Shizhu Gao & Quanchao Zhang & Hai Zhang & Mark J. Hudson & Guanghui Dong & Sihao Wu & Yanming Fang & Chen Liu & Chunyan Feng & Wei L, 2020. "Ancient genomes from northern China suggest links between subsistence changes and human migration," Nature Communications, Nature, vol. 11(1), pages 1-9, December.
    11. Masao Nagasaki & Jun Yasuda & Fumiki Katsuoka & Naoki Nariai & Kaname Kojima & Yosuke Kawai & Yumi Yamaguchi-Kabata & Junji Yokozawa & Inaho Danjoh & Sakae Saito & Yukuto Sato & Takahiro Mimori & Kaor, 2015. "Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals," Nature Communications, Nature, vol. 6(1), pages 1-13, November.
    12. Alice B. Popejoy & Stephanie M. Fullerton, 2016. "Genomics is failing on diversity," Nature, Nature, vol. 538(7624), pages 161-164, October.
    13. Daniel Taliun & Daniel N. Harris & Michael D. Kessler & Jedidiah Carlson & Zachary A. Szpiech & Raul Torres & Sarah A. Gagliano Taliun & André Corvelo & Stephanie M. Gogarten & Hyun Min Kang & Achille, 2021. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program," Nature, Nature, vol. 590(7845), pages 290-299, February.
    14. Joshua M Akey & Michael A Eberle & Mark J Rieder & Christopher S Carlson & Mark D Shriver & Deborah A Nickerson & Leonid Kruglyak, 2004. "Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes," PLOS Biology, Public Library of Science, vol. 2(10), pages 1-1, September.
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