維基百科

千人基因組計劃

千人基因組計劃（英語：1000 Genomes Project）啟動於2008年1月，是一項國際研究工作，目標是迄今建立最詳盡的人類遺傳變異（英語：Human genetic variation）目錄。科學家們計劃在隨後三年內，利用新開發的、更快、更便宜的技術，測定來自不同族群的數量至少一千名的匿名參與者的基因組序列。在2010年，該項目完成了前導研究階段，數據結果發表在《自然 (期刊)》雜誌（Nature）上[1]。在2012年10月，1092個基因組的測序結果公佈在《自然》雜誌上[2]。2015年，兩篇關於項目結果和未來展望的論文發表在了《自然》雜誌上。項目識別出許多限於密切相關群體的罕見變異和八種結構類變異[3]。

基因數量和順序的變化（A-D）在群體內和種群之間產生遺傳多樣性。

該項目集結來自世界各地機構的多學科研究團隊，包括中國、意大利、日本、肯雅、尼日利亞、秘魯、英國和美國。每一個團隊將貢獻巨大的測序數據集以完善人類基因組計劃。最終收集數據建立公共數據庫，免費向科學界和社會公眾開放。[2]

通過提供所有人類遺傳變異的概述，該聯盟將為生物科學的所有領域，特別是在遺傳學，醫學，藥理學，生物化學和生物信息學學科打造有價值的科研工具[4]。

背景 編輯

在人類基因組計劃完成後，人類群體遺傳學和比較基因組學的進步使得有可能越來越多地洞察遺傳多樣性的性質[5]。然而，我們剛剛才開始明白如何隨機取樣配子，結構變異（插入/刪除（indel），拷貝數變異（英語：Copy-number variation）（CNV），反轉錄轉座子），單核苷酸多態性（SNP）和自然選擇等過程的塑造了物種內部以及物種之間變化的水平和模式[6][7][8][9]。

人類遺傳變異 編輯

有性生殖期間配子的隨機抽樣導致遺傳漂變 - 後代中種群頻率的隨機波動 - 並且在沒有外部影響的情況下會導致所有變異的喪失。 據推測，遺傳漂移率與種群規模成反比，並且可能在特定情況下加速，例如種群瓶頸，種群規模減少一段時間，以及奠基者效應（英語：founder effect，指個體在一群人追溯到少數創始人）[6]。

項目發現 編輯

前導階段 編輯

前導階段(Pilot phase)包括三個項目：

  • 來自4個群體的179個個體的低覆蓋度全基因組測序
  • 2個三人組（母親-父親-孩子）的高覆蓋率排序
  • 來自7個群體的697個個體的外顯子靶向測序

結果發現，平均而言，每個人在註釋基因中攜帶約250-300個功能喪失變體，並且先前涉及遺傳性疾病的50-100個變體。 基於這２個三人組，估計每個新的種系的從頭開始生殖系突變率約為每一對每一代有10−8個[1]。

參見 編輯

參考文獻 編輯

  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. （原始內容存檔於2012-11-04） （英語）. 
  3. ^ Variety of life. Nature News & Comment. 2015-09-30 [2015-10-15]. （原始內容存檔於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 （頁面存檔備份，存於互聯網檔案館）
  5. ^ Nielsen, R. Genomics: In search of rare human variants. Nature. 2010, 467 (7319): 1050–1051. PMID 20981085. doi:10.1038/4671050a. 
  6. ^ 6.0 6.1 JC Long, Human Genetic Variation: The mechanisms and results of microevolution, American Anthropological Association (2004)
  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. 
  8. ^ 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.; González, J. R.; Gratacòs, 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  . PMID 17122850. doi:10.1038/nature05329. 
  9. ^ 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. 

外部連結 編輯

取自 "https://zh.wikipedia.org/w/index.php?title=千人基因组计划&oldid=71726010"