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维基百科

千人基因组计划

十月 04, 2023

千人基因组计划（英語：1000 Genomes Project）启动于2008年1月，是一项国际研究工作，目标是迄今建立最详尽的人类遗传变异（英语：Human genetic variation）目录。科学家们计划在随后三年内，利用新开发的、更快、更便宜的技术，测定来自不同族群的数量至少一千名的匿名参与者的基因组序列。在2010年，该项目完成了前導研究阶段，数据结果发表在《自然 (期刊)》杂志（Nature）上[1]。在2012年10月，1092个基因组的测序结果公布在《自然》杂志上[2]。2015年，两篇关于项目结果和未来展望的论文发表在了《自然》杂志上。项目识别出许多限于密切相关群体的罕见变异和八种结构类变异[3]。

基因数量和顺序的变化（A-D）在群体内和种群之间产生遗传多样性。

该项目集結来自世界各地机构的多学科研究团队，包括中国、意大利、日本、肯尼亚、尼日利亚、秘鲁、英国和美国。每一个团队将贡献巨大的测序数据集以完善人类基因组计划。最终收集数据建立公共数据库，免费向科学界和社会公众开放。[2]

通过提供所有人类遗传变异的概述，该联盟将为生物科学的所有领域，特别是在遗传学，医学，药理学，生物化学和生物信息学学科打造有价值的科研工具[4]。

背景 编辑

在人类基因组计划完成后，人类群体遗传学和比较基因组学的进步使得有可能越来越多地洞察遗传多样性的性质[5]。然而，我们刚刚才开始明白如何随机取样配子，结构变异（插入/删除（indel），拷贝数变异（英语：Copy-number variation）（CNV），反转录转座子），单核苷酸多态性（SNP）和自然选择等过程的塑造了物种内部以及物种之间变化的水平和模式[6][7][8][9]。

人类遗传变异 编辑

有性生殖期间配子的随机抽样导致遗传漂变 - 后代中种群频率的随机波动 - 并且在没有外部影响的情况下会导致所有变异的丧失。 据推测，遗传漂移率与种群规模成反比，并且可能在特定情况下加速，例如种群瓶颈，种群规模减少一段时间，以及奠基者效应（英語：founder effect，指个体在一群人追溯到少数创始人）[6]。

项目发现 编辑

前導阶段 编辑

前導阶段(Pilot phase)包括三个项目：

  • 来自4个群体的179个个体的低覆盖度全基因组测序
  • 2个三人组（母亲-父亲-孩子）的高覆盖率排序
  • 来自7个群体的697个个体的外显子靶向测序

结果发现，平均而言，每个人在注释基因中携带约250-300个功能丧失变体，并且先前涉及遗传性疾病的50-100个变体。 基于这２个三人组，估计每个新的种系的从头开始生殖系突变率约为每一对每一代有10−8个[1]。

参见 编辑

参考文献 编辑

  1. ^ 1.0 1.1 Durbin, R. M.; Abecasis, G. R.; Altshuler, R. M.; Auton, A.; Brooks, D. R.; Durbin, A.; Gibbs, A. G.; Hurles, F. S.; McVean, F. M.; Donnelly, P.; Egholm, M.; Flicek, P.; Gabriel, S. B.; Gibbs, R. A.; Knoppers, B. M.; Lander, E. S.; Lehrach, H.; Mardis, E. R.; McVean, G. A.; Nickerson, D. A.; Peltonen, L.; Schafer, A. J.; Sherry, S. T.; Wang, J.; Wilson, R. K.; Gibbs, R. A.; Deiros, D.; Metzker, M.; Muzny, D.; Reid, J. A map of human genome variation from population-scale sequencing. Nature. 2010, 467 (7319): 1061–1073. PMC 3042601  . PMID 20981092. doi:10.1038/nature09534. 
  2. ^ 2.0 2.1 Gil A. McVean, David M. Altshuler (Co-Chair), Richard M. Durbin (Co-Chair), Gonçalo R. Abecasis, David R. Bentley, Aravinda Chakravarti, Andrew G. Clark, Peter Donnelly, Evan E. Eichler, Paul Flicek, Stacey B. Gabriel, Richard A. Gibbs, Eric D. Green, Matthew E. Hurles, Bartha M. Knoppers, Jan O. Korbel, Eric S. Lander, Charles Lee, Hans Lehrach, Elaine R. Mardis, Gabor T. Marth, Deborah A. Nickerson, Jeanette P. Schmidt, Stephen T. Sherry, Jun Wang, Richard K. Wilson, Richard A. Gibbs (Principal Investigator), Huyen Dinh, Christie Kovar, Sandra Lee, Lora Lewis, Donna Muzny, Jeff Reid, Min Wang, Jun Wang (Principal Investigator), Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Guoqing Li, Jingxiang Li, Yingrui Li, Zhuo Li, Xiao Liu, Yao Lu, Xuedi Ma, Zhe Su, Shuaishuai Tai, Meifang Tang, Bo Wang, Guangbiao Wang, Honglong Wu, Renhua Wu, Ye Yin, Wenwei Zhang, Jiao Zhao, Meiru Zhao, Xiaole Zheng, Yan Zhou, Eric S. Lander (Principal Investigator), David M. Altshuler, Stacey B. Gabriel (Co-Chair), Namrata Gupta, Paul Flicek (Principal Investigator), Laura Clarke, Rasko Leinonen, Richard E. Smith, Xiangqun Zheng-Bradley, David R. Bentley (Principal Investigator), Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Hans Lehrach (Principal Investigator), Ralf Sudbrak (Project Leader), Marcus W. Albrecht, Vyacheslav S. Amstislavskiy, Tatiana A. Borodina, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie-Laure Yaspo, Stephen T. Sherry (Principal Investigator), Gil A. McVean (Principal Investigator), Elaine R. Mardis (Co-Principal Investigator) (Co-Chair), Richard K. Wilson (Co-Principal Investigator), Lucinda Fulton, Robert Fulton, George M. Weinstock, Richard M. Durbin (Principal Investigator), Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M. Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Jeanette P. Schmidt (Principal Investigator), Christopher J. Davies, Jeremy Gollub, Teresa Webster, Brant Wong, Yiping Zhan, Adam Auton (Principal Investigator), Richard A. Gibbs (Principal Investigator), Fuli Yu (Project Leader), Matthew Bainbridge, Danny Challis, Uday S. Evani, James Lu, Donna Muzny, Uma Nagaswamy, Jeff Reid, Aniko Sabo, Yi Wang, Jin Yu, Jun Wang (Principal Investigator), Lachlan J. M. Coin, Lin Fang, Xiaosen Guo, Xin Jin, Guoqing Li, Qibin Li, Yingrui Li, Zhenyu Li, Haoxiang Lin, Binghang Liu, Ruibang Luo, Nan Qin, Haojing Shao, Bingqiang Wang, Yinlong Xie, Chen Ye, Chang Yu, Fan Zhang, Hancheng Zheng, Hongmei Zhu, Gabor T. Marth (Principal Investigator), Erik P. Garrison, Deniz Kural, Wan-Ping Lee, Wen Fung Leong, Alistair N. Ward, Jiantao Wu, Mengyao Zhang, Charles Lee (Principal Investigator), Lauren Griffin, Chih-Heng Hsieh, Ryan E. Mills, Xinghua Shi, Marcin von Grotthuss, Chengsheng Zhang, Mark J. Daly (Principal Investigator), Mark A. DePristo (Project Leader), David M. Altshuler, Eric Banks, Gaurav Bhatia, Mauricio O. Carneiro, Guillermo del Angel, Stacey B. Gabriel, Giulio Genovese, Namrata Gupta, Robert E. Handsaker, Chris Hartl, Eric S. Lander, Steven A. McCarroll, James C. Nemesh, Ryan E. Poplin, Stephen F. Schaffner, Khalid Shakir, Seungtai C. Yoon (Principal Investigator), Jayon Lihm, Vladimir Makarov, Hanjun Jin (Principal Investigator), Wook Kim, Ki Cheol Kim, Jan O. Korbel (Principal Investigator), Tobias Rausch, Paul Flicek (Principal Investigator), Kathryn Beal, Laura Clarke, Fiona Cunningham, Javier Herrero, William M. McLaren, Graham R. S. Ritchie, Richard E. Smith, Xiangqun Zheng-Bradley, Andrew G. Clark (Principal Investigator), Srikanth Gottipati, Alon Keinan, Juan L. Rodriguez-Flores, Pardis C. Sabeti (Principal Investigator), Sharon R. Grossman, Shervin Tabrizi, Ridhi Tariyal, David N. Cooper (Principal Investigator), Edward V. Ball, Peter D. Stenson, David R. Bentley (Principal Investigator), Bret Barnes, Markus Bauer, R. Keira Cheetham, Tony Cox, Michael Eberle, Sean Humphray, Scott Kahn, Lisa Murray, John Peden, Richard Shaw, Kai Ye (Principal Investigator), Mark A. Batzer (Principal Investigator), Miriam K. Konkel, Jerilyn A. Walker, Daniel G. MacArthur (Principal Investigator), Monkol Lek, Sudbrak (Project Leader), Vyacheslav S. Amstislavskiy, Ralf Herwig, Mark D. Shriver (Principal Investigator), Carlos D. Bustamante (Principal Investigator), Jake K. Byrnes, Francisco M. De La Vega, Simon Gravel, Eimear E. Kenny, Jeffrey M. Kidd, Phil Lacroute, Brian K. Maples, Andres Moreno-Estrada, Fouad Zakharia, Eran Halperin (Principal Investigator), Yael Baran, David W. Craig (Principal Investigator), Alexis Christoforides, Nils Homer, Tyler Izatt, Ahmet A. Kurdoglu, Shripad A. Sinari, Kevin Squire, Stephen T. Sherry (Principal Investigator), Chunlin Xiao, Jonathan Sebat (Principal Investigator), Vineet Bafna, Kenny Ye, Esteban G. Burchard (Principal Investigator), Ryan D. Hernandez (Principal Investigator), Christopher R. Gignoux, David Haussler (Principal Investigator), Sol J. Katzman, W. James Kent, Bryan Howie, Andres Ruiz-Linares (Principal Investigator), Emmanouil T. Dermitzakis (Principal Investigator), Tuuli Lappalainen, Scott E. Devine (Principal Investigator), Xinyue Liu, Ankit Maroo, Luke J. Tallon, Jeffrey A. Rosenfeld (Principal Investigator), Leslie P. Michelson, Gonçalo R. Abecasis (Principal Investigator) (Co-Chair), Hyun Min Kang (Project Leader), Paul Anderson, Andrea Angius, Abigail Bigham, Tom Blackwell, Fabio Busonero, Francesco Cucca, Christian Fuchsberger, Chris Jones, Goo Jun, Yun Li, Robert Lyons, Andrea Maschio, Eleonora Porcu, Fred Reinier, Serena Sanna, David Schlessinger, Carlo Sidore, Adrian Tan, Mary Kate Trost, Philip Awadalla (Principal Investigator), Alan Hodgkinson, Gerton Lunter (Principal Investigator), Gil A. McVean (Principal Investigator) (Co-Chair), Jonathan L. Marchini (Principal Investigator), Simon Myers (Principal Investigator), Claire Churchhouse, Olivier Delaneau, Anjali Gupta-Hinch, Zamin Iqbal, Iain Mathieson, Andy Rimmer, Dionysia K. Xifara, Taras K. Oleksyk (Principal Investigator), Yunxin Fu (Principal Investigator), Xiaoming Liu, Momiao Xiong, Lynn Jorde (Principal Investigator), David Witherspoon, Jinchuan Xing, Evan E. Eichler (Principal Investigator), Brian L. Browning (Principal Investigator), Can Alkan, Iman Hajirasouliha, Fereydoun Hormozdiari, Arthur Ko, Peter H. Sudmant, Elaine R. Mardis (Co-Principal Investigator), Ken Chen, Asif Chinwalla, Li Ding, David Dooling, Daniel C. Koboldt, Michael D. McLellan, John W. Wallis, Michael C. Wendl, Qunyuan Zhang, Richard M. Durbin (Principal Investigator), Matthew E. Hurles (Principal Investigator), Cornelis A. Albers, Qasim Ayub, Senduran Balasubramaniam, Yuan Chen, Alison J. Coffey, Vincenza Colonna, Petr Danecek, Ni Huang, Luke Jostins, Thomas M. Keane, Heng Li, Shane McCarthy, Aylwyn Scally, James Stalker, Klaudia Walter, Yali Xue, Yujun Zhang, Mark B. Gerstein (Principal Investigator), Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Lukas Habegger, Arif O. Harmanci, Mike Jin, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Yingrui Li, Ruibang Luo, Hongmei Zhu, Charles Lee (Principal Investigator) (Co-Chair), Lauren Griffin, Chih-Heng Hsieh, Ryan E. Mills, Xinghua Shi, Marcin von Grotthuss, Chengsheng Zhang, Gabor T. Marth (Principal Investigator), Erik P. Garrison, Deniz Kural, Wan-Ping Lee, Alistair N. Ward, Jiantao Wu, Mengyao Zhang, Steven A. McCarroll (Project Leader), David M. Altshuler, Eric Banks, Guillermo del Angel, Giulio Genovese, Robert E. Handsaker, Chris Hartl, James C. Nemesh, Khalid Shakir, Seungtai C. Yoon (Principal Investigator), Jayon Lihm, Vladimir Makarov, Jeremiah Degenhardt, Paul Flicek (Principal Investigator), Laura Clarke, Richard E. Smith, Xiangqun Zheng-Bradley, Jan O. Korbel (Principal Investigator) (Co-Chair), Tobias Rausch, Adrian M. Stütz, David R. Bentley (Principal Investigator), Bret Barnes, R. Keira Cheetham, Michael Eberle, Sean Humphray, Scott Kahn, Lisa Murray, Richard Shaw, Kai Ye (Principal Investigator), Mark A. Batzer (Principal Investigator), Miriam K. Konkel, Jerilyn A. Walker, Phil Lacroute, David W. Craig (Principal Investigator), Nils Homer, Deanna Church, Chunlin Xiao, Jonathan Sebat (Principal Investigator), Vineet Bafna, Jacob J. Michaelson, Kenny Ye, Scott E. Devine (Principal Investigator), Xinyue Liu, Ankit Maroo, Luke J. Tallon, Gerton Lunter (Principal Investigator), Gil A. McVean (Principal Investigator), Zamin Iqbal, David Witherspoon, Jinchuan Xing, Evan E. Eichler (Principal Investigator) (Co-Chair), Can Alkan, Iman Hajirasouliha, Fereydoun Hormozdiari, Arthur Ko, Peter H. Sudmant, Ken Chen, Asif Chinwalla, Li Ding, Michael D. McLellan, John W. Wallis, Matthew E. Hurles (Principal Investigator) (Co-Chair), Ben Blackburne, Heng Li, Sarah J. Lindsay, Zemin Ning, Aylwyn Scally, Klaudia Walter, Yujun Zhang, Mark B. Gerstein (Principal Investigator), Alexej Abyzov, Jieming Chen, Declan Clarke, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Richard A. Gibbs (Principal Investigator) (Co-Chair), Fuli Yu (Project Leader), Matthew Bainbridge, Danny Challis, Uday S. Evani, Christie Kovar, Lora Lewis, James Lu, Donna Muzny, Uma Nagaswamy, Jeff Reid, Aniko Sabo, Jin Yu, Xiaosen Guo, Yingrui Li, Renhua Wu, Gabor T. Marth (Principal Investigator) (Co-Chair), Erik P. Garrison, Wen Fung Leong, Alistair N. Ward, Guillermo del Angel, Mark A. DePristo, Stacey B. Gabriel, Namrata Gupta, Chris Hartl, Ryan E. Poplin, Andrew G. Clark (Principal Investigator), Juan L. Rodriguez-Flores, Paul Flicek (Principal Investigator), Laura Clarke, Richard E. Smith, Xiangqun Zheng-Bradley, Daniel G. MacArthur (Principal Investigator), Carlos D. Bustamante (Principal Investigator), Simon Gravel, David W. Craig (Principal Investigator), Alexis Christoforides, Nils Homer, Tyler Izatt, Stephen T. Sherry (Principal Investigator), Chunlin Xiao, Emmanouil T. Dermitzakis (Principal Investigator), Gonçalo R. Abecasis (Principal Investigator), Hyun Min Kang, Gil A. McVean (Principal Investigator), Elaine R. Mardis (Principal Investigator), David Dooling, Lucinda Fulton, Robert Fulton, Daniel C. Koboldt, Richard M. Durbin (Principal Investigator), Senduran Balasubramaniam, Thomas M. Keane, Shane McCarthy, James Stalker, Mark B. Gerstein (Principal Investigator), Suganthi Balasubramanian, Lukas Habegger, Erik P. Garrison, Richard A. Gibbs (Principal Investigator), Matthew Bainbridge, Donna Muzny, Fuli Yu, Jin Yu, Guillermo del Angel, Robert E. Handsaker, Vladimir Makarov, Juan L. Rodriguez-Flores, Hanjun Jin (Principal Investigator), Wook Kim, Ki Cheol Kim, Paul Flicek (Principal Investigator), Kathryn Beal, Laura Clarke, Fiona Cunningham, Javier Herrero, William M. McLaren, Graham R. S. Ritchie, Xiangqun Zheng-Bradley, Shervin Tabrizi, Daniel G. MacArthur (Principal Investigator), Monkol Lek, Carlos D. Bustamante (Principal Investigator), Francisco M. De La Vega, David W. Craig (Principal Investigator), Ahmet A. Kurdoglu, Tuuli Lappalainen, Jeffrey A. Rosenfeld (Principal Investigator), Leslie P. Michelson, Philip Awadalla (Principal Investigator), Alan Hodgkinson, Gil A. McVean (Principal Investigator), Ken Chen, Yuan Chen, Vincenza Colonna, Adam Frankish, Jennifer Harrow, Yali Xue, Mark B. Gerstein (Principal Investigator) (Co-Chair), Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Arif O. Harmanci, Mike Jin, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Richard A. Gibbs (Principal Investigator), Gerald Fowler, Walker Hale, Divya Kalra, Christie Kovar, Donna Muzny, Jeff Reid, Jun Wang (Principal Investigator), Xiaosen Guo, Guoqing Li, Yingrui Li, Xiaole Zheng, David M. Altshuler, Paul Flicek (Principal Investigator) (Co-Chair), Laura Clarke (Project Leader), Jonathan Barker, Gavin Kelman, Eugene Kulesha, Rasko Leinonen, William M. McLaren, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Richard E. Smith, Ian Streeter, Iliana Toneva, Brendan Vaughan, Xiangqun Zheng-Bradley, David R. Bentley (Principal Investigator), Tony Cox, Sean Humphray, Scott Kahn, Ralf Sudbrak (Project Leader), Marcus W. Albrecht, Matthias Lienhard, David W. Craig (Principal Investigator), Tyler Izatt, Ahmet A. Kurdoglu, Stephen T. Sherry (Principal Investigator) (Co-Chair), Victor Ananiev, Zinaida Belaia, Dimitriy Beloslyudtsev, Nathan Bouk, Chao Chen, Deanna Church, Robert Cohen, Charles Cook, John Garner, Timothy Hefferon, Mikhail Kimelman, Chunlei Liu, John Lopez, Peter Meric, Chris O’Sullivan, Yuri Ostapchuk, Lon Phan, Sergiy Ponomarov, Valerie Schneider, Eugene Shekhtman, Karl Sirotkin, Douglas Slotta, Chunlin Xiao, Hua Zhang, David Haussler (Principal Investigator), Gonçalo R. Abecasis (Principal Investigator), Gil A. McVean (Principal Investigator), Can Alkan, Arthur Ko, David Dooling, Richard M. Durbin (Principal Investigator), Senduran Balasubramaniam, Thomas M. Keane, Shane McCarthy, James Stalker, Aravinda Chakravarti (Co-Chair), Bartha M. Knoppers (Co-Chair), Gonçalo R. Abecasis, Kathleen C. Barnes, Christine Beiswanger, Esteban G. Burchard, Carlos D. Bustamante, Hongyu Cai, Hongzhi Cao, Richard M. Durbin, Neda Gharani, Richard A. Gibbs, Christopher R. Gignoux, Simon Gravel, Brenna Henn, Danielle Jones, Lynn Jorde, Jane S. Kaye, Alon Keinan, Alastair Kent, Angeliki Kerasidou, Yingrui Li, Rasika Mathias, Andres Moreno-Estrada, Pilar N. Ossorio, Michael Parker, David Reich, Charles N. Rotimi, Charmaine D. Royal, Karla Sandoval, Yeyang Su, Ralf Sudbrak, Zhongming Tian, Bernd Timmermann, Sarah Tishkoff, Lorraine H. Toji, Chris Tyler Smith, Marc Via, Yuhong Wang, Huanming Yang, Ling Yang, Jiayong Zhu, Walter Bodmer, Gabriel Bedoya, Andres Ruiz-Linares, Cai Zhi Ming, Gao Yang, Chu Jia You, Leena Peltonen, Andres Garcia-Montero, Alberto Orfao, Julie Dutil, Juan C. Martinez-Cruzado, Taras K. Oleksyk, Lisa D. Brooks, Adam L. Felsenfeld, Jean E. McEwen, Nicholas C. Clemm, Audrey Duncanson, Michael Dunn, Eric D. Green, Mark S. Guyer, Jane L. Peterson, Goncalo R. Abecasis, Adam Auton, Lisa D. Brooks, Mark A. DePristo, Richard M. Durbin, Robert E. Handsaker, Hyun Min Kang, Gabor T. Marth. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012/11, 491 (7422): 56–65 [2018-04-02]. ISSN 1476-4687. doi:10.1038/nature11632. （原始内容于2012-11-04） （英语）. 
  3. ^ Variety of life. Nature News & Comment. 2015-09-30 [2015-10-15]. （原始内容于2015-10-04）. 
  4. ^ G Spencer, International Consortium Announces the 1000 Genomes Project, EMBARGOED (2008) http://www.nih.gov/news/health/jan2008/nhgri-22.htm （页面存档备份，存于互联网档案馆）
  5. ^ Nielsen, R. Genomics: In search of rare human variants. Nature. 2010, 467 (7319): 1050–1051. PMID 20981085. doi:10.1038/4671050a. 
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  7. ^ Anzai, T.; Shiina, T.; Kimura, N.; Yanagiya, K.; Kohara, S.; Shigenari, A.; Yamagata, T.; Kulski, J. K.; Naruse, T. K.; Fujimori, Y.; Fukuzumi, Y.; Yamazaki, M.; Tashiro, H.; Iwamoto, C.; Umehara, Y.; Imanishi, T.; Meyer, A.; Ikeo, K.; Gojobori, T.; Bahram, S.; Inoko, H. Comparative sequencing of human and chimpanzee MHC class I regions unveils insertions/deletions as the major path to genomic divergence. Proceedings of the National Academy of Sciences. 2003, 100 (13): 7708–7713. PMC 164652  . PMID 12799463. doi:10.1073/pnas.1230533100. 
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外部链接 编辑

  • （英文）1000 Genomes（页面存档备份，存于互联网档案馆） - A Deep Catalog of Human Genetic Variation - official web page
  • （英文）International HapMap Project（页面存档备份，存于互联网档案馆） - official web page
  • （英文）

十月 04, 2023
千人基因组计划, 英語, 1000, genomes, project, 启动于2008年1月, 是一项国际研究工作, 目标是迄今建立最详尽的人类遗传变异, 英语, human, genetic, variation, 目录, 科学家们计划在随后三年内, 利用新开发的, 更快, 更便宜的技术, 测定来自不同族群的数量至少一千名的匿名参与者的基因组序列, 在2010年, 该项目完成了前導研究阶段, 数据结果发表在, 自然, 期刊, 杂志, nature, 在2012年10月, 1092个基因组的测序结果公布在, 自然. 千人基因组计划 英語 1000 Genomes Project 启动于2008年1月 是一项国际研究工作 目标是迄今建立最详尽的人类遗传变异 英语 Human genetic variation 目录 科学家们计划在随后三年内 利用新开发的 更快 更便宜的技术 测定来自不同族群的数量至少一千名的匿名参与者的基因组序列 在2010年 该项目完成了前導研究阶段 数据结果发表在 自然 期刊 杂志 Nature 上 1 在2012年10月 1092个基因组的测序结果公布在 自然 杂志上 2 2015年 两篇关于项目结果和未来展望的论文发表在了 自然 杂志上 项目识别出许多限于密切相关群体的罕见变异和八种结构类变异 3 基因数量和顺序的变化 A D 在群体内和种群之间产生遗传多样性 该项目集結来自世界各地机构的多学科研究团队 包括中国 意大利 日本 肯尼亚 尼日利亚 秘鲁 英国和美国 每一个团队将贡献巨大的测序数据集以完善人类基因组计划 最终收集数据建立公共数据库 免费向科学界和社会公众开放 2 通过提供所有人类遗传变异的概述 该联盟将为生物科学的所有领域 特别是在遗传学 医学 药理学 生物化学和生物信息学学科打造有价值的科研工具 4 目录 1 背景 1 1 人类遗传变异 2 项目发现 2 1 前導阶段 3 参见 4 参考文献 5 外部链接背景 编辑在人类基因组计划完成后 人类群体遗传学和比较基因组学的进步使得有可能越来越多地洞察遗传多样性的性质 5 然而 我们刚刚才开始明白如何随机取样配子 结构变异 插入 删除 indel 拷贝数变异 英语 Copy number variation CNV 反转录转座子 单核苷酸多态性 SNP 和自然选择等过程的塑造了物种内部以及物种之间变化的水平和模式 6 7 8 9 人类遗传变异 编辑 有性生殖期间配子的随机抽样导致遗传漂变 后代中种群频率的随机波动 并且在没有外部影响的情况下会导致所有变异的丧失 据推测 遗传漂移率与种群规模成反比 并且可能在特定情况下加速 例如种群瓶颈 种群规模减少一段时间 以及奠基者效应 英語 founder effect 指个体在一群人追溯到少数创始人 6 项目发现 编辑前導阶段 编辑 前導阶段 Pilot phase 包括三个项目 来自4个群体的179个个体的低覆盖度全基因组测序 2个三人组 母亲 父亲 孩子 的高覆盖率排序 来自7个群体的697个个体的外显子靶向测序结果发现 平均而言 每个人在注释基因中携带约250 300个功能丧失变体 并且先前涉及遗传性疾病的50 100个变体 基于这２个三人组 估计每个新的种系的从头开始生殖系突变率约为每一对每一代有10 8个 1 参见 编辑 nbsp 遗传学主题 nbsp 分子与细胞生物学主题 人类基因组计划 国际人类基因组单体型图计划 千植物基因组计划 英语 1000 Plant Genomes Project 参考文献 编辑 1 0 1 1 Durbin R M Abecasis G R Altshuler R M Auton A Brooks D R Durbin A Gibbs A G Hurles F S McVean F M Donnelly P Egholm M Flicek P Gabriel S B Gibbs R A Knoppers B M Lander E S Lehrach H Mardis E R McVean G A Nickerson D A Peltonen L Schafer A J Sherry S T Wang J Wilson R K Gibbs R A Deiros D Metzker M Muzny D Reid J A map of human genome variation from population scale sequencing Nature 2010 467 7319 1061 1073 PMC 3042601 nbsp PMID 20981092 doi 10 1038 nature09534 2 0 2 1 Gil A McVean David M Altshuler Co Chair Richard M Durbin Co Chair Goncalo R Abecasis David R Bentley Aravinda Chakravarti Andrew G Clark Peter Donnelly Evan E Eichler Paul Flicek Stacey B Gabriel Richard A Gibbs Eric D Green Matthew E Hurles Bartha M Knoppers Jan O Korbel Eric S Lander Charles Lee Hans Lehrach Elaine R Mardis Gabor T Marth Deborah A Nickerson Jeanette P Schmidt Stephen T Sherry Jun Wang Richard K Wilson Richard A Gibbs Principal Investigator Huyen Dinh Christie Kovar Sandra Lee Lora Lewis Donna Muzny Jeff Reid Min Wang Jun Wang Principal Investigator Xiaodong Fang Xiaosen Guo Min Jian Hui Jiang Xin Jin Guoqing Li Jingxiang Li Yingrui Li Zhuo Li Xiao Liu Yao Lu Xuedi Ma Zhe Su Shuaishuai Tai Meifang Tang Bo Wang Guangbiao Wang Honglong Wu Renhua Wu Ye Yin Wenwei Zhang Jiao Zhao Meiru Zhao Xiaole Zheng Yan Zhou Eric S Lander Principal Investigator David M Altshuler Stacey B Gabriel Co Chair Namrata Gupta Paul Flicek Principal Investigator Laura Clarke Rasko Leinonen Richard E Smith Xiangqun Zheng Bradley David R Bentley Principal Investigator Russell Grocock Sean Humphray Terena James Zoya Kingsbury Hans Lehrach Principal Investigator Ralf Sudbrak Project Leader Marcus W Albrecht Vyacheslav S Amstislavskiy Tatiana A Borodina Matthias Lienhard Florian Mertes Marc Sultan Bernd Timmermann Marie Laure Yaspo Stephen T Sherry Principal Investigator Gil A McVean Principal Investigator Elaine R Mardis Co Principal Investigator Co Chair Richard K Wilson Co Principal Investigator Lucinda Fulton Robert Fulton George M Weinstock Richard M Durbin Principal Investigator Senduran Balasubramaniam John Burton Petr Danecek Thomas M Keane Anja Kolb Kokocinski Shane McCarthy James Stalker Michael Quail Jeanette P Schmidt Principal Investigator Christopher J Davies Jeremy Gollub Teresa Webster Brant Wong Yiping Zhan Adam Auton Principal Investigator Richard A Gibbs Principal Investigator Fuli Yu Project Leader Matthew Bainbridge Danny Challis Uday S Evani James Lu Donna Muzny Uma Nagaswamy Jeff Reid Aniko Sabo Yi Wang Jin Yu Jun Wang Principal Investigator Lachlan J M Coin Lin Fang Xiaosen Guo Xin Jin Guoqing Li Qibin Li Yingrui Li Zhenyu Li Haoxiang Lin Binghang Liu Ruibang Luo Nan Qin Haojing Shao Bingqiang Wang Yinlong Xie Chen Ye Chang Yu Fan Zhang Hancheng Zheng Hongmei Zhu Gabor T Marth Principal Investigator Erik P Garrison Deniz Kural Wan Ping Lee Wen Fung Leong Alistair N Ward Jiantao Wu Mengyao Zhang Charles Lee Principal Investigator Lauren Griffin Chih Heng Hsieh Ryan E Mills Xinghua Shi Marcin von Grotthuss Chengsheng Zhang Mark J Daly Principal Investigator Mark A DePristo Project Leader David M Altshuler Eric Banks Gaurav Bhatia Mauricio O Carneiro Guillermo del Angel Stacey B Gabriel Giulio Genovese Namrata Gupta Robert E Handsaker Chris Hartl Eric S Lander Steven A McCarroll James C Nemesh Ryan E Poplin Stephen F Schaffner Khalid Shakir Seungtai C Yoon Principal Investigator Jayon Lihm Vladimir Makarov Hanjun Jin Principal Investigator Wook Kim Ki Cheol Kim Jan O Korbel Principal Investigator Tobias Rausch Paul Flicek Principal Investigator Kathryn Beal Laura Clarke Fiona Cunningham Javier Herrero William M McLaren Graham R S Ritchie Richard E Smith Xiangqun Zheng Bradley Andrew G Clark Principal Investigator Srikanth Gottipati Alon Keinan Juan L Rodriguez Flores Pardis C Sabeti Principal Investigator Sharon R Grossman Shervin Tabrizi Ridhi Tariyal David N Cooper Principal Investigator Edward V Ball Peter D Stenson David R Bentley Principal Investigator Bret Barnes Markus Bauer R Keira Cheetham Tony Cox Michael Eberle Sean Humphray Scott Kahn Lisa Murray John Peden Richard Shaw Kai Ye Principal Investigator Mark A Batzer Principal Investigator Miriam K Konkel Jerilyn A Walker Daniel G MacArthur Principal Investigator Monkol Lek Sudbrak Project Leader Vyacheslav S Amstislavskiy Ralf Herwig Mark D Shriver Principal Investigator Carlos D Bustamante Principal Investigator Jake K Byrnes Francisco M De La Vega Simon Gravel Eimear E Kenny Jeffrey M Kidd Phil Lacroute Brian K Maples Andres Moreno Estrada Fouad Zakharia Eran Halperin Principal Investigator Yael Baran David W Craig Principal Investigator Alexis Christoforides Nils Homer Tyler Izatt Ahmet A Kurdoglu Shripad A Sinari Kevin Squire Stephen T Sherry Principal Investigator Chunlin Xiao Jonathan Sebat Principal Investigator Vineet Bafna Kenny Ye Esteban G Burchard Principal Investigator Ryan D Hernandez Principal Investigator Christopher R Gignoux David Haussler Principal Investigator Sol J Katzman W James Kent Bryan Howie Andres Ruiz Linares Principal Investigator Emmanouil T Dermitzakis Principal Investigator Tuuli Lappalainen Scott E Devine Principal Investigator Xinyue Liu Ankit Maroo Luke J Tallon Jeffrey A Rosenfeld Principal Investigator Leslie P Michelson Goncalo R Abecasis Principal Investigator Co Chair Hyun Min Kang Project Leader Paul Anderson Andrea Angius Abigail Bigham Tom Blackwell Fabio Busonero Francesco Cucca Christian Fuchsberger Chris Jones Goo Jun Yun Li Robert Lyons Andrea Maschio Eleonora Porcu Fred Reinier Serena Sanna David Schlessinger Carlo Sidore Adrian Tan Mary Kate Trost Philip Awadalla Principal Investigator Alan Hodgkinson Gerton Lunter Principal Investigator Gil A McVean Principal Investigator Co Chair Jonathan L Marchini Principal Investigator Simon Myers Principal Investigator Claire Churchhouse Olivier Delaneau Anjali Gupta Hinch Zamin Iqbal Iain Mathieson Andy Rimmer Dionysia K Xifara Taras K Oleksyk Principal Investigator Yunxin Fu Principal Investigator Xiaoming Liu Momiao Xiong Lynn Jorde Principal Investigator David Witherspoon Jinchuan Xing Evan E Eichler Principal Investigator Brian L Browning Principal Investigator Can Alkan Iman Hajirasouliha Fereydoun Hormozdiari Arthur Ko Peter H Sudmant Elaine R Mardis Co Principal Investigator Ken Chen Asif Chinwalla Li Ding David Dooling Daniel C Koboldt Michael D McLellan John W Wallis Michael C Wendl Qunyuan Zhang Richard M Durbin Principal Investigator Matthew E Hurles Principal Investigator Cornelis A Albers Qasim Ayub Senduran Balasubramaniam Yuan Chen Alison J Coffey Vincenza Colonna Petr Danecek Ni Huang Luke Jostins Thomas M Keane Heng Li Shane McCarthy Aylwyn Scally James Stalker Klaudia Walter Yali Xue Yujun Zhang Mark B Gerstein Principal Investigator Alexej Abyzov Suganthi Balasubramanian Jieming Chen Declan Clarke Yao Fu Lukas Habegger Arif O Harmanci Mike Jin Ekta Khurana Xinmeng Jasmine Mu Cristina Sisu Yingrui Li Ruibang Luo Hongmei Zhu Charles Lee Principal Investigator Co Chair Lauren Griffin Chih Heng Hsieh Ryan E Mills Xinghua Shi Marcin von Grotthuss Chengsheng Zhang Gabor T Marth Principal Investigator Erik P Garrison Deniz Kural Wan Ping Lee Alistair N Ward Jiantao Wu Mengyao Zhang Steven A McCarroll Project Leader David M Altshuler Eric Banks Guillermo del Angel Giulio Genovese Robert E Handsaker Chris Hartl James C Nemesh Khalid Shakir Seungtai C Yoon Principal Investigator Jayon Lihm Vladimir Makarov Jeremiah Degenhardt Paul Flicek Principal Investigator Laura Clarke Richard E Smith Xiangqun Zheng Bradley Jan O Korbel Principal Investigator Co Chair Tobias Rausch Adrian M Stutz David R Bentley Principal Investigator Bret Barnes R Keira Cheetham Michael Eberle Sean Humphray Scott Kahn Lisa Murray Richard Shaw Kai Ye Principal Investigator Mark A Batzer Principal Investigator Miriam K Konkel Jerilyn A Walker Phil Lacroute David W Craig Principal Investigator Nils Homer Deanna Church Chunlin Xiao Jonathan Sebat Principal Investigator Vineet Bafna Jacob J Michaelson Kenny Ye Scott E Devine Principal Investigator Xinyue Liu Ankit Maroo Luke J Tallon Gerton Lunter Principal Investigator Gil A McVean Principal Investigator Zamin Iqbal David Witherspoon Jinchuan Xing Evan E Eichler Principal Investigator Co Chair Can Alkan Iman Hajirasouliha Fereydoun Hormozdiari Arthur Ko Peter H Sudmant Ken Chen Asif Chinwalla Li Ding Michael D McLellan John W Wallis Matthew E Hurles Principal Investigator Co Chair Ben Blackburne Heng Li Sarah J Lindsay Zemin Ning Aylwyn Scally Klaudia Walter Yujun Zhang Mark B Gerstein Principal Investigator Alexej Abyzov Jieming Chen Declan Clarke Ekta Khurana Xinmeng Jasmine Mu Cristina Sisu Richard A Gibbs Principal Investigator Co Chair Fuli Yu Project Leader Matthew Bainbridge Danny Challis Uday S Evani Christie Kovar Lora Lewis James Lu Donna Muzny Uma Nagaswamy Jeff Reid Aniko Sabo Jin Yu Xiaosen Guo Yingrui Li Renhua Wu Gabor T Marth Principal Investigator Co Chair Erik P Garrison Wen Fung Leong Alistair N Ward Guillermo del Angel Mark A DePristo Stacey B Gabriel Namrata Gupta Chris Hartl Ryan E Poplin Andrew G Clark Principal Investigator Juan L Rodriguez Flores Paul Flicek Principal Investigator Laura Clarke Richard E Smith Xiangqun Zheng Bradley Daniel G MacArthur Principal Investigator Carlos D Bustamante Principal Investigator Simon Gravel David W Craig Principal Investigator Alexis Christoforides Nils Homer Tyler Izatt Stephen T Sherry Principal Investigator Chunlin Xiao Emmanouil T Dermitzakis Principal Investigator Goncalo R Abecasis Principal Investigator Hyun Min Kang Gil A McVean Principal Investigator Elaine R Mardis Principal Investigator David Dooling Lucinda Fulton Robert Fulton Daniel C Koboldt Richard M Durbin Principal Investigator Senduran Balasubramaniam Thomas M Keane Shane McCarthy James Stalker Mark B Gerstein Principal Investigator Suganthi Balasubramanian Lukas Habegger Erik P Garrison Richard A Gibbs Principal Investigator Matthew Bainbridge Donna Muzny Fuli Yu Jin Yu Guillermo del Angel Robert E Handsaker Vladimir Makarov Juan L Rodriguez Flores Hanjun Jin Principal Investigator Wook Kim Ki Cheol Kim Paul Flicek Principal Investigator Kathryn Beal Laura Clarke Fiona Cunningham Javier Herrero William M McLaren Graham R S Ritchie Xiangqun Zheng Bradley Shervin Tabrizi Daniel G MacArthur Principal Investigator Monkol Lek Carlos D Bustamante Principal Investigator Francisco M De La Vega David W Craig Principal Investigator Ahmet A Kurdoglu Tuuli Lappalainen Jeffrey A Rosenfeld Principal Investigator Leslie P Michelson Philip Awadalla Principal Investigator Alan Hodgkinson Gil A McVean Principal Investigator Ken Chen Yuan Chen Vincenza Colonna Adam Frankish Jennifer Harrow Yali Xue Mark B Gerstein Principal Investigator Co Chair Alexej Abyzov Suganthi Balasubramanian Jieming Chen Declan Clarke Yao Fu Arif O Harmanci Mike Jin Ekta Khurana Xinmeng Jasmine Mu Cristina Sisu Richard A Gibbs Principal Investigator Gerald Fowler Walker Hale Divya Kalra Christie Kovar Donna Muzny Jeff Reid Jun Wang Principal Investigator Xiaosen Guo Guoqing Li Yingrui Li Xiaole Zheng David M Altshuler Paul Flicek Principal Investigator Co Chair Laura Clarke Project Leader Jonathan Barker Gavin Kelman Eugene Kulesha Rasko Leinonen William M McLaren Rajesh Radhakrishnan Asier Roa Dmitriy Smirnov Richard E Smith Ian Streeter Iliana Toneva Brendan Vaughan Xiangqun Zheng Bradley David R Bentley Principal Investigator Tony Cox Sean Humphray Scott Kahn Ralf Sudbrak Project Leader Marcus W Albrecht Matthias Lienhard David W Craig Principal Investigator Tyler Izatt Ahmet A Kurdoglu Stephen T Sherry Principal Investigator Co Chair Victor Ananiev Zinaida Belaia Dimitriy Beloslyudtsev Nathan Bouk Chao Chen Deanna Church Robert Cohen Charles Cook John Garner Timothy Hefferon Mikhail Kimelman Chunlei Liu John Lopez Peter Meric Chris O Sullivan Yuri Ostapchuk Lon Phan Sergiy Ponomarov Valerie Schneider Eugene Shekhtman Karl Sirotkin Douglas Slotta Chunlin Xiao Hua Zhang David Haussler Principal Investigator Goncalo R Abecasis Principal Investigator Gil A McVean Principal Investigator Can Alkan Arthur Ko David Dooling Richard M Durbin Principal Investigator Senduran Balasubramaniam Thomas M Keane Shane McCarthy James Stalker Aravinda Chakravarti Co Chair Bartha M Knoppers Co Chair Goncalo R Abecasis Kathleen C Barnes Christine Beiswanger Esteban G Burchard Carlos D Bustamante Hongyu Cai Hongzhi Cao Richard M Durbin Neda Gharani Richard A Gibbs Christopher R Gignoux Simon Gravel Brenna Henn Danielle Jones Lynn Jorde Jane S Kaye Alon Keinan Alastair Kent Angeliki Kerasidou Yingrui Li Rasika Mathias Andres Moreno Estrada Pilar N Ossorio Michael Parker David Reich Charles N Rotimi Charmaine D Royal Karla Sandoval Yeyang Su Ralf Sudbrak Zhongming Tian Bernd Timmermann Sarah Tishkoff Lorraine H Toji Chris Tyler Smith Marc Via Yuhong Wang Huanming Yang Ling Yang Jiayong Zhu Walter Bodmer Gabriel Bedoya Andres Ruiz Linares Cai Zhi Ming Gao Yang Chu Jia You Leena Peltonen Andres Garcia Montero Alberto Orfao Julie Dutil Juan C Martinez Cruzado Taras K Oleksyk Lisa D Brooks Adam L Felsenfeld Jean E McEwen Nicholas C Clemm Audrey Duncanson Michael Dunn Eric D Green Mark S Guyer Jane L Peterson Goncalo R Abecasis Adam Auton Lisa D Brooks Mark A DePristo Richard M Durbin Robert E Handsaker Hyun Min Kang Gabor T Marth An integrated map of genetic variation from 1 092 human genomes Nature 2012 11 491 7422 56 65 2018 04 02 ISSN 1476 4687 doi 10 1038 nature11632 原始内容存档于2012 11 04 英语 请检查 date 中的日期值 帮助 Variety of life Nature News amp Comment 2015 09 30 2015 10 15 原始内容存档于2015 10 04 G Spencer International Consortium Announces the 1000 Genomes Project EMBARGOED 2008 http www nih gov news health jan2008 nhgri 22 htm 页面存档备份 存于互联网档案馆 Nielsen R Genomics In search of rare human variants Nature 2010 467 7319 1050 1051 PMID 20981085 doi 10 1038 4671050a 6 0 6 1 JC Long Human Genetic Variation The mechanisms and results of microevolution American Anthropological Association 2004 Anzai T Shiina T Kimura N Yanagiya K Kohara S Shigenari A Yamagata T Kulski J K Naruse T K Fujimori Y Fukuzumi Y Yamazaki M Tashiro H Iwamoto C Umehara Y Imanishi T Meyer A Ikeo K Gojobori T Bahram S Inoko H Comparative sequencing of human and chimpanzee MHC class I regions unveils insertions deletions as the major path to genomic divergence Proceedings of the National Academy of Sciences 2003 100 13 7708 7713 PMC 164652 nbsp PMID 12799463 doi 10 1073 pnas 1230533100 Redon R Ishikawa S Fitch K R Feuk L Perry G H Andrews T D Fiegler H Shapero M H Carson A R Chen W Cho E K Dallaire S Freeman J L Gonzalez J R Gratacos M N Huang J Kalaitzopoulos D Komura D MacDonald J R Marshall C R Mei R Montgomery L Nishimura K Okamura K Shen F Somerville M J Tchinda J Valsesia A Woodwark C Yang F Global variation in copy number in the human genome Nature 2006 444 7118 444 454 PMC 2669898 nbsp PMID 17122850 doi 10 1038 nature05329 Barreiro L B Laval G Quach H L N Patin E Quintana Murci L S Natural selection has driven population differentiation in modern humans Nature Genetics 2008 40 3 340 345 PMID 18246066 doi 10 1038 ng 78 外部链接 编辑 英文 1000 Genomes 页面存档备份 存于互联网档案馆 A Deep Catalog of Human Genetic Variation official web page 英文 International HapMap Project 页面存档备份 存于互联网档案馆 official web page 英文 Human Genome Project Information 取自 https zh wikipedia org w index php title 千人基因组计划 amp oldid 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