A global reference for human genetic variation

Autor: Colonna V. (1000 Genomes Project Consortium) Adam Auton, Gonçalo R Abecasis, David M Altshuler, Richard M Durbin, 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, Gil A McVean, Deborah A Nickerson, Jeanette P Schmidt, Stephen T Sherry, Jun Wang, Richard K Wilson, Eric Boerwinkle, Harsha Doddapaneni, Yi Han, Viktoriya Korchina, Christie Kovar, Sandra Lee, Donna Muzny, Jeffrey G Reid, Yiming Zhu, Yuqi Chang, Qiang Feng, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Tianming Lan, Guoqing Li, Jingxiang Li, Yingrui Li, Shengmao Liu, Xiao Liu, Yao Lu, Xuedi Ma, Meifang Tang, Bo Wang, Guangbiao Wang, Honglong Wu, Renhua Wu, Xun Xu, Ye Yin, Dandan Zhang, Wenwei Zhang, Jiao Zhao, Meiru Zhao, Xiaole Zheng, Namrata Gupta, Neda Gharani, Lorraine H Toji, Norman P Gerry, Alissa M Resch, Jonathan Barker, Laura Clarke, Laurent Gil, Sarah E Hunt, Gavin Kelman, Eugene Kulesha, Rasko Leinonen, William M McLaren, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Richard E Smith, Ian Streeter, Anja Thormann, Iliana Toneva, Brendan Vaughan, Xiangqun Zheng-Bradley, Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Ralf Sudbrak, Marcus W Albrecht, Vyacheslav S Amstislavskiy, Tatiana A Borodina, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie-Laure Yaspo, Lucinda Fulton, Robert Fulton, 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, Hua Zhang, Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Christopher J Davies, Jeremy Gollub, Teresa Webster, Brant Wong, Yiping Zhan, Adam Auton, Christopher L Campbell, Yu Kong, Anthony Marcketta, Fuli Yu, Lilian Antunes, Matthew Bainbridge, Aniko Sabo, Zhuoyi Huang, Lachlan J M Coin, Lin Fang, Qibin Li, Zhenyu Li, Haoxiang Lin, Binghang Liu, Ruibang Luo, Haojing Shao, Yinlong Xie, Chen Ye, Chang Yu, Fan Zhang, Hancheng Zheng, Hongmei Zhu, Can Alkan, Elif Dal, Fatma Kahveci, Erik P Garrison, Deniz Kural, Wan-Ping Lee, Wen Fung Leong, Michael Stromberg, Alistair N Ward, Jiantao Wu, Mengyao Zhang, Mark J Daly, Mark A DePristo, Robert E Handsaker, Eric Banks, Gaurav Bhatia, Guillermo Del Angel, Giulio Genovese, Heng Li, Seva Kashin, Steven A McCarroll, James C Nemesh, Ryan E Poplin, Seungtai C Yoon, Jayon Lihm, Vladimir Makarov, Srikanth Gottipati, Alon Keinan, Juan L Rodriguez-Flores, Tobias Rausch, Markus H Fritz, Adrian M Stütz, Kathryn Beal, Avik Datta, Javier Herrero, Graham R S Ritchie, Daniel Zerbino, Pardis C Sabeti, Ilya Shlyakhter, Stephen F Schaffner, Joseph Vitti, David N Cooper, Edward V Ball, Peter D Stenson, Bret Barnes, Markus Bauer, R Keira Cheetham, Anthony Cox, Michael Eberle, Scott Kahn, Lisa Murray, John Peden, Richard Shaw, Eimear E Kenny, Mark A Batzer, Miriam K Konkel, Jerilyn A Walker, Daniel G MacArthur, Monkol Lek, Ralf Herwig, Li Ding, Daniel C Koboldt, David Larson, Kai Ye, Simon Gravel, Anand Swaroop, Emily Chew, Tuuli Lappalainen, Yaniv Erlich, Melissa Gymrek, Thomas Frederick Willems, Jared T Simpson, Mark D Shriver, Jeffrey A Rosenfeld, Carlos D Bustamante, Stephen B Montgomery, Francisco M De La Vega, Jake K Byrnes, Andrew W Carroll, Marianne K DeGorter, Phil Lacroute, Brian K Maples, Alicia R Martin, Andres Moreno-Estrada, Suyash S Shringarpure, Fouad Zakharia, Eran Halperin, Yael Baran, Eliza Cerveira, Jaeho Hwang, Ankit Malhotra, Dariusz Plewczynski, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang, Fiona C L Hyland, David W Craig, Alexis Christoforides, Nils Homer, Tyler Izatt, Ahmet A Kurdoglu, Shripad A Sinari, Kevin Squire, Chunlin Xiao, Jonathan Sebat, Danny Antaki, Madhusudan Gujral, Amina Noor, Kenny Ye, Esteban G Burchard, Ryan D Hernandez, Christopher R Gignoux, David Haussler, Sol J Katzman, W James Kent, Bryan Howie, Andres Ruiz-Linares, Emmanouil T Dermitzakis, Scott E Devine, Hyun Min Kang, Jeffrey M Kidd, Tom Blackwell, Sean Caron, Wei Chen, Sarah Emery, Lars Fritsche, Christian Fuchsberger, Goo Jun, Bingshan Li, Robert Lyons, Chris Scheller, Carlo Sidore, Shiya Song, Elzbieta Sliwerska, Daniel Taliun, Adrian Tan, Ryan Welch, Mary Kate Wing, Xiaowei Zhan, Philip Awadalla, Alan Hodgkinson, Yun Li, Xinghua Shi, Andrew Quitadamo, Gerton Lunter, Jonathan L Marchini, Simon Myers, Claire Churchhouse, Olivier Delaneau, Anjali Gupta-Hinch, Warren Kretzschmar, Zamin Iqbal, Iain Mathieson, Androniki Menelaou, Andy Rimmer, Dionysia K Xifara, Taras K Oleksyk, Yunxin Fu, Xiaoming Liu, Momiao Xiong, Lynn Jorde, David Witherspoon, Jinchuan Xing, Brian L Browning, Sharon R Browning, Fereydoun Hormozdiari, Peter H Sudmant, Ekta Khurana, Chris Tyler-Smith, Cornelis A Albers, Qasim Ayub, Yuan Chen, Vincenza Colonna, Luke Jostins, Klaudia Walter, Yali Xue, Mark B Gerstein, Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Arif O Harmanci, Mike Jin, Donghoon Lee, Jeremy Liu, Xinmeng Jasmine Mu, Jing Zhang, Yan Zhang, Chris Hartl, Khalid Shakir, Jeremiah Degenhardt, Sascha Meiers, Benjamin Raeder, Francesco Paolo Casale, Oliver Stegle, Eric-Wubbo Lameijer, Ira Hall, Vineet Bafna, Jacob Michaelson, Eugene J Gardner, Ryan E Mills, Gargi Dayama, Ken Chen, Xian Fan, Zechen Chong, Tenghui Chen, Mark J Chaisson, John Huddleston, Maika Malig, Bradley J Nelson, Nicholas F Parrish, Ben Blackburne, Sarah J Lindsay, Zemin Ning, Yujun Zhang, Hugo Lam, Cristina Sisu, Danny Challis, Uday S Evani, James Lu, Uma Nagaswamy, Jin Yu, Wangshen Li, Lukas Habegger, Haiyuan Yu, Fiona Cunningham, Ian Dunham, Kasper Lage, Jakob Berg Jespersen, Heiko Horn, Donghoon Kim, Rob Desalle, Apurva Narechania, Melissa A Wilson Sayres, Fernando L Mendez, G David Poznik, Peter A Underhill, Lachlan Coin, David Mittelman, Ruby Banerjee, Maria Cerezo, Thomas W Fitzgerald, Sandra Louzada, Andrea Massaia, Graham R Ritchie, Fengtang Yang, Divya Kalra, Walker Hale, Xu Dan, Kathleen C Barnes, Christine Beiswanger, Hongyu Cai, Hongzhi Cao, Brenna Henn, Danielle Jones, Jane S Kaye, Alastair Kent, Angeliki Kerasidou, Rasika Mathias, Pilar N Ossorio, Michael Parker, Charles N Rotimi, Charmaine D Royal, Karla Sandoval, Yeyang Su, Zhongming Tian, Sarah Tishkoff, Marc Via, Yuhong Wang, Huanming Yang, Ling Yang, Jiayong Zhu, Walter Bodmer, Gabriel Bedoya, Zhiming Cai, Yang Gao, Jiayou Chu, Leena Peltonen, Andres Garcia-Montero, Alberto Orfao, Julie Dutil, Juan C Martinez-Cruzado, Rasika A Mathias, Anselm Hennis, Harold Watson, Colin McKenzie, Firdausi Qadri, Regina LaRocque, Xiaoyan Deng, Danny Asogun, Onikepe Folarin, Christian Happi, Omonwunmi Omoniwa, Matt Stremlau, Ridhi Tariyal, Muminatou Jallow, Fatoumatta Sisay Joof, Tumani Corrah, Kirk Rockett, Dominic Kwiatkowski, Jaspal Kooner, Trân T?nh Hiên, Sarah J Dunstan, Nguyen Thuy Hang, Richard Fonnie, Robert Garry, Lansana Kanneh, Lina Moses, John Schieffelin, Donald S Grant, Carla Gallo, Giovanni Poletti, Danish Saleheen, Asif Rasheed, Lisa D Brooks, Adam L Felsenfeld, Jean E McEwen, Yekaterina Vaydylevich, Audrey Duncanson, Michael Dunn, Jeffery A Schloss

Publikováno v: Nature 562 (2015): 68–74. doi:10.1038/nature15393
info:cnr-pdr/source/autori:Colonna V. (1000 Genomes Project Consortium) Adam Auton, Gonçalo R Abecasis, David M Altshuler, Richard M Durbin, 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, Gil A McVean, Deborah A Nickerson, Jeanette P Schmidt, Stephen T Sherry, Jun Wang, Richard K Wilson, Richard A Gibbs, Eric Boerwinkle, Harsha Doddapaneni, Yi Han, Viktoriya Korchina, Christie Kovar, Sandra Lee, Donna Muzny, Jeffrey G Reid, Yiming Zhu, Jun Wang, Yuqi Chang, Qiang Feng, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Tianming Lan, Guoqing Li, Jingxiang Li, Yingrui Li, Shengmao Liu, Xiao Liu, Yao Lu, Xuedi Ma, Meifang Tang, Bo Wang, Guangbiao Wang, Honglong Wu, Renhua Wu, Xun Xu, Ye Yin, Dandan Zhang, Wenwei Zhang, Jiao Zhao, Meiru Zhao, Xiaole Zheng, Eric S Lander, David M Altshuler, Stacey B Gabriel, Namrata Gupta, Neda Gharani, Lorraine H Toji, Norman P Gerry, Alissa M Resch, Paul Flicek, Jonathan Barker, Laura Clarke, Laurent Gil, Sarah E Hunt, Gavin Kelman, Eugene Kulesha, Rasko Leinonen, William M McLaren, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Richard E Smith, Ian Streeter, Anja Thormann, Iliana Toneva, Brendan Vaughan, Xiangqun Zheng-Bradley, David R Bentley, Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Hans Lehrach, Ralf Sudbrak, Marcus W Albrecht, Vyacheslav S Amstislavskiy, Tatiana A Borodina, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie-Laure Yaspo, Elaine R Mardis, Richard K Wilson, Lucinda Fulton, Robert Fulton, Stephen T Sherry, 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, Hua Zhang, Gil A McVean, Richard M Durbin, Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Richard M Durbin, Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Jeanette P Schmidt, Christopher J Davies, Jeremy Gollub, Teresa Webster, Brant Wong, Yiping Zhan, Adam Auton, Christopher L Campbell, Yu Kong, Anthony Marcketta, Richard A Gibbs, Fuli Yu, Lilian Antunes, Matthew Bainbridge, Donna Muzny, Aniko Sabo, Zhuoyi Huang, Jun Wang, Lachlan J M Coin, Lin Fang, Xiaosen Guo, Xin Jin, Guoqing Li, Qibin Li, Yingrui Li, Zhenyu Li, Haoxiang Lin, Binghang Liu, Ruibang Luo, Haojing Shao, Yinlong Xie, Chen Ye, Chang Yu, Fan Zhang, Hancheng Zheng, Hongmei Zhu, Can Alkan, Elif Dal, Fatma Kahveci, Gabor T Marth, Erik P Garrison, Deniz Kural, Wan-Ping Lee, Wen Fung Leong, Michael Stromberg, Alistair N Ward, Jiantao Wu, Mengyao Zhang, Mark J Daly, Mark A DePristo, Robert E Handsaker, David M Altshuler, Eric Banks, Gaurav Bhatia, Guillermo Del Angel, Stacey B Gabriel, Giulio Genovese, Namrata Gupta, Heng Li, Seva Kashin, Eric S Lander, Steven A McCarroll, James C Nemesh, Ryan E Poplin, Seungtai C Yoon, Jayon Lihm, Vladimir Makarov, Andrew G Clark, Srikanth Gottipati, Alon Keinan, Juan L Rodriguez-Flores, Jan O Korbel, Tobias Rausch, Markus H Fritz, Adrian M Stütz, Paul Flicek, Kathryn Beal, Laura Clarke, Avik Datta, Javier Herrero, William M McLaren, Graham R S Ritchie, Richard E Smith, Daniel Zerbino, Xiangqun Zheng-Bradley, Pardis C Sabeti, Ilya Shlyakhter, Stephen F Schaffner, Joseph Vitti, David N Cooper, Edward V Ball, Peter D Stenson, David R Bentley, Bret Barnes, Markus Bauer, R Keira Cheetham, Anthony Cox, Michael Eberle, Sean Humphray, Scott Kahn, Lisa Murray, John Peden, Richard Shaw, Eimear E Kenny, Mark A Batzer, Miriam K Konkel, Jerilyn A Walker, Daniel G MacArthur, Monkol Lek, Ralf Sudbrak, Vyacheslav S Amstislavskiy, Ralf Herwig, Elaine R Mardis, Li Ding, Daniel C Koboldt, David Larson, Kai Ye, Simon Gravel, Anand Swaroop, Emily Chew, Tuuli Lappalainen, Yaniv Erlich, Melissa Gymrek, Thomas Frederick Willems, Jared T Simpson, Mark D Shriver, Jeffrey A Rosenfeld, Carlos D Bustamante, Stephen B Montgomery, Francisco M De La Vega, Jake K Byrnes, Andrew W Carroll, Marianne K DeGorter, Phil Lacroute, Brian K Maples, Alicia R Martin, Andres Moreno-Estrada, Suyash S Shringarpure, Fouad Zakharia, Eran Halperin, Yael Baran, Charles Lee, Eliza Cerveira, Jaeho Hwang, Ankit Malhotra, Dariusz Plewczynski, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang, Fiona C L Hyland, David W Craig, Alexis Christoforides, Nils Homer, Tyler Izatt, Ahmet A Kurdoglu, Shripad A Sinari, Kevin Squire, Stephen T Sherry, Chunlin Xiao, Jonathan Sebat, Danny Antaki, Madhusudan Gujral, Amina Noor, Kenny Ye, Esteban G Burchard, Ryan D Hernandez, Christopher R Gignoux, David Haussler, Sol J Katzman, W James Kent, Bryan Howie, Andres Ruiz-Linares, Emmanouil T Dermitzakis, Scott E Devine, Gonçalo R Abecasis, Hyun Min Kang, Jeffrey M Kidd, Tom Blackwell, Sean Caron, Wei Chen, Sarah Emery, Lars Fritsche, Christian Fuchsberger, Goo Jun, Bingshan Li, Robert Lyons, Chris Scheller, Carlo Sidore, Shiya Song, Elzbieta Sliwerska, Daniel Taliun, Adrian Tan, Ryan Welch, Mary Kate Wing, Xiaowei Zhan, Philip Awadalla, Alan Hodgkinson, Yun Li, Xinghua Shi, Andrew Quitadamo, Gerton Lunter, Gil A McVean, Jonathan L Marchini, Simon Myers, Claire Churchhouse, Olivier Delaneau, Anjali Gupta-Hinch, Warren Kretzschmar, Zamin Iqbal, Iain Mathieson, Androniki Menelaou, Andy Rimmer, Dionysia K Xifara, Taras K Oleksyk, Yunxin Fu, Xiaoming Liu, Momiao Xiong, Lynn Jorde, David Witherspoon, Jinchuan Xing, Evan E Eichler, Brian L Browning, Sharon R Browning, Fereydoun Hormozdiari, Peter H Sudmant, Ekta Khurana, Richard M Durbin, Matthew E Hurles, Chris Tyler-Smith, Cornelis A Albers, Qasim Ayub, Senduran Balasubramaniam, Yuan Chen, Vincenza Colonna, Petr Danecek, Luke Jostins, Thomas M Keane, Shane McCarthy, Klaudia Walter, Yali Xue, Mark B Gerstein, Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Arif O Harmanci, Mike Jin, Donghoon Lee, Jeremy Liu, Xinmeng Jasmine Mu, Jing Zhang, Yan Zhang, Mark B Gerstein, Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Arif O Harmanci, Mike Jin, Donghoon Lee, Jeremy Liu, Xinmeng Jasmine Mu, Jing Zhang, Yan Zhang, Yingrui Li, Ruibang Luo, Hongmei Zhu, Can Alkan, Elif Dal, Fatma Kahveci, Gabor T Marth, Erik P Garrison, Deniz Kural, Wan-Ping Lee, Alistair N Ward, Jiantao Wu, Mengyao Zhang, Steven A McCarroll, Robert E Handsaker, David M Altshuler, Eric Banks, Guillermo Del Angel, Giulio Genovese, Chris Hartl, Heng Li, Seva Kashin, James C Nemesh, Khalid Shakir, Seungtai C Yoon, Jayon Lihm, Vladimir Makarov, Jeremiah Degenhardt, Jan O Korbel, Markus H Fritz, Sascha Meiers, Benjamin Raeder, Tobias Rausch, Adrian M Stütz, Paul Flicek, Francesco Paolo Casale, Laura Clarke, Richard E Smith, Oliver Stegle, Xiangqun Zheng-Bradley, David R Bentley, Bret Barnes, R Keira Cheetham, Michael Eberle, Sean Humphray, Scott Kahn, Lisa Murray, Richard Shaw, Eric-Wubbo Lameijer, Mark A Batzer, Miriam K Konkel, Jerilyn A Walker, Li Ding, Ira Hall, Kai Ye, Phil Lacroute, Charles Lee, Eliza Cerveira, Ankit Malhotra, Jaeho Hwang, Dariusz Plewczynski, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang, David W Craig, Nils Homer, Deanna Church, Chunlin Xiao, Jonathan Sebat, Danny Antaki, Vineet Bafna, Jacob Michaelson, Kenny Ye, Scott E Devine, Eugene J Gardner, Gonçalo R Abecasis, Jeffrey M Kidd, Ryan E Mills, Gargi Dayama, Sarah Emery, Goo Jun, Xinghua Shi, Andrew Quitadamo, Gerton Lunter, Gil A McVean, Ken Chen, Xian Fan, Zechen Chong, Tenghui Chen, David Witherspoon, Jinchuan Xing, Evan E Eichler, Mark J Chaisson, Fereydoun Hormozdiari, John Huddleston, Maika Malig, Bradley J Nelson, Peter H Sudmant, Nicholas F Parrish, Ekta Khurana, Matthew E Hurles, Ben Blackburne, Sarah J Lindsay, Zemin Ning, Klaudia Walter, Yujun Zhang, Mark B Gerstein, Alexej Abyzov, Jieming Chen, Declan Clarke, Hugo Lam, Xinmeng Jasmine Mu, Cristina Sisu, Jing Zhang, Yan Zhang, Mark B Gerstein, Alexej Abyzov, Jieming Chen, Declan Clarke, Hugo Lam, Xinmeng Jasmine Mu, Cristina Sisu, Jing Zhang, Yan Zhang, Richard A Gibbs, Fuli Yu, Matthew Bainbridge, Danny Challis, Uday S Evani, Christie Kovar, James Lu, Donna Muzny, Uma Nagaswamy, Jeffrey G Reid, Aniko Sabo, Jin Yu, Xiaosen Guo, Wangshen Li, Yingrui Li, Renhua Wu, Gabor T Marth, 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, Juan L Rodriguez-Flores, Paul Flicek, Laura Clarke, Richard E Smith, Xiangqun Zheng-Bradley, Daniel G MacArthur, Elaine R Mardis, Robert Fulton, Daniel C Koboldt, Simon Gravel, Carlos D Bustamante, David W Craig, Alexis Christoforides, Nils Homer, Tyler Izatt, Stephen T Sherry, Chunlin Xiao, Emmanouil T Dermitzakis, Gonçalo R Abecasis, Hyun Min Kang, Gil A McVean, Mark B Gerstein, Suganthi Balasubramanian, Lukas Habegger, Mark B Gerstein, Suganthi Balasubramanian, Lukas Habegger, Haiyuan Yu, Paul Flicek, Laura Clarke, Fiona Cunningham, Ian Dunham, Daniel Zerbino, Xiangqun Zheng-Bradley, Kasper Lage, Jakob Berg Jespersen, Heiko Horn, Stephen B Montgomery, Marianne K DeGorter, Ekta Khurana, Chris Tyler-Smith, Yuan Chen, Vincenza Colonna, Yali Xue, Mark B Gerstein, Suganthi Balasubramanian, Yao Fu, Donghoon Kim, Mark B Gerstein, Suganthi Balasubramanian, Yao Fu, Donghoon Kim, Adam Auton, Anthony Marcketta, Rob Desalle, Apurva Narechania, Melissa A Wilson Sayres, Erik P Garrison, Robert E Handsaker, Seva Kashin, Steven A McCarroll, Juan L Rodriguez-Flores, Paul Flicek, Laura Clarke, Xiangqun Zheng-Bradley, Yaniv Erlich, Melissa Gymrek, Thomas Frederick Willems, Carlos D Bustamante, Fernando L Mendez, G David Poznik, Peter A Underhill, Charles Lee, Eliza Cerveira, Ankit Malhotra, Mallory Romanovitch, Chengsheng Zhang, Gonçalo R Abecasis, Lachlan Coin, Haojing Shao, David Mittelman, Chris Tyler-Smith, Qasim Ayub, Ruby Banerjee, Maria Cerezo, Yuan Chen, Thomas W Fitzgerald, Sandra Louzada, Andrea Massaia, Shane McCarthy, Graham R Ritchie, Yali Xue, Fengtang Yang, Chris Tyler-Smith, Qasim Ayub, Ruby Banerjee, Maria Cerezo, Yuan Chen, Thomas W Fitzgerald, Sandra Louzada, Andrea Massaia, Shane McCarthy, Graham R Ritchie, Yali Xue, Fengtang Yang, Richard A Gibbs, Christie Kovar, Divya Kalra, Walker Hale, Donna Muzny, Jeffrey G Reid, Jun Wang, Xu Dan, Xiaosen Guo, Guoqing Li, Yingrui Li, Chen Ye, Xiaole Zheng, David M Altshuler, Paul Flicek, Laura Clarke, Xiangqun Zheng-Bradley, David R Bentley, Anthony Cox, Sean Humphray, Scott Kahn, Ralf Sudbrak, Marcus W Albrecht, Matthias Lienhard, David Larson, David W Craig, Tyler Izatt, Ahmet A Kurdoglu, Stephen T Sherry, Chunlin Xiao, David Haussler, Gonçalo R Abecasis, Gil A McVean, Richard M Durbin, Senduran Balasubramaniam, Thomas M Keane, Shane McCarthy, James Stalker, Richard M Durbin, Senduran Balasubramaniam, Thomas M Keane, Shane McCarthy, James Stalker, Aravinda Chakravarti, Bartha M Knoppers, Gonçalo R Abecasis, Kathleen C Barnes, Christine Beiswanger, Esteban G Burchard, Carlos D Bustamante, Hongyu Cai, Hongzhi Cao, Richard M Durbin, Norman P Gerry, 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, Gil A McVean, Andres Moreno-Estrada, Pilar N Ossorio, Michael Parker, Alissa M Resch, Charles N Rotimi, Charmaine D Royal, Karla Sandoval, Yeyang Su, Ralf Sudbrak, Zhongming Tian, 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, Zhiming Cai, Yang Gao, Jiayou Chu, Leena Peltonen, Andres Garcia-Montero, Alberto Orfao, Julie Dutil, Juan C Martinez-Cruzado, Taras K Oleksyk, Kathleen C Barnes, Rasika A Mathias, Anselm Hennis, Harold Watson, Colin McKenzie, Firdausi Qadri, Regina LaRocque, Pardis C Sabeti, Jiayong Zhu, Xiaoyan Deng, Pardis C Sabeti, Danny Asogun, Onikepe Folarin, Christian Happi, Omonwunmi Omoniwa, Matt Stremlau, Ridhi Tariyal, Muminatou Jallow, Fatoumatta Sisay Joof, Tumani Corrah, Kirk Rockett, Dominic Kwiatkowski, Jaspal Kooner, Trân T?nh Hiên, Sarah J Dunstan, Nguyen Thuy Hang, Richard Fonnie, Robert Garry, Lansana Kanneh, Lina Moses, Pardis C Sabeti, John Schieffelin, Donald S Grant, Carla Gallo, Giovanni Poletti, Danish Saleheen, Asif Rasheed, Danish Saleheen, Asif Rasheed, Lisa D Brooks, Adam L Felsenfeld, Jean E McEwen, Yekaterina Vaydylevich, Eric D Green, Audrey Duncanson, Michael Dunn, Jeffery A Schloss, Jun Wang, Huanming Yang, Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis, Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis/titolo:A global reference for human genetic variation./doi:10.1038%2Fnature15393/rivista:Nature/anno:2015/pagina_da:68/pagina_a:74/intervallo_pagine:68–74/volume:562
Nature, 526, 7571, pp. 68-74
Nature
PMC
Wang, J, Feng, Q, Fang, X, Guo, X, Jian, M, Jiang, H, Liu, X, Fang, L, Cao, H & Jespersen, J B 2015, ' A global reference for human genetic variation ', Nature, vol. 526, no. 7571, pp. 68-74 . https://doi.org/10.1038/nature15393
Nature, 526, 68-74
Auton, A, Abecasis, G R, M. Altshuler, D, M. Durbin, R, R. Bentley, D, Chakravarti, A, G. Clark, A, Donnelly, P, E. Eichler, E, Flicek, P, Wang, J, Feng, Q, Fang, X, Guo, X, Jian, M, Jiang, H, Liu, X, Fang, L, Cao, H & Jespersen, J B 2015, ' A global reference for human genetic variation ', Nature, vol. 526, pp. 68-74 . https://doi.org/10.1038/nature15393

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f831935330ae70c1da4505a7d39ae2a9
https://www.nature.com/articles/nature15393

Irish gerontological society

Autor: P. Finucane, L. Giles, C. O’Sullivan, J. Duggan, A. Sexton, N. Atkins, E. O’Brien, A. Freyne, M. Wrigley, C. P. Maguire, M. Rowan, D. O’Neill, B. A. Lawlor, J. B. Walsh, D. Coakley, M. Cagney, J. Harbison, M. Crowe, D. Keating, R. F. Coen, C. A. O’Boyle, R. M. Doyle, N. P. Kennedy, S. Doyle, P. Gerrard-Dunne, D. G. Weir, R. Coen, K. Mulpeter, B. McNally, E. Daly, D. Harmon, E. Stokes, N. Kennedy, D. Gilchriest, A. E. Heaney, I. S. Young, T. R. O. Beringer, M. Kirby, G. R. J. Swanwick, I. Bruce, F. Buggy, P. Beausang, M. O’Connor, M. Hyland, C. Twomey, M. MacMahon, T. Smith, Wm. C. Love, C. J. Foy, A. P. Passmore, M. D. Vahidassr, M. Smye, I. Young, C. Cunningham, N. F. Horgan, N. Keane, P. Connolly, A. Mannion, A. Kelly, M. Power, J. Greene, C. W. Fan, B. McDonnell, Z. Johnson, M. Doona, R. Lawlor, C. Magee, P. McCormack, D. Nolan, P. Ó Mathúna, D. Lyons, T. J. Allain, S. Roy, M. Polkey, C. G. Swift, M. Heraty, E. M. Keane, S. O’Broin, B. Kelleher, M. P. O’Connor, C. Gaynor, D. Lynch, C. M. Hyland, D. Hanlon, P. Harrington, M. Ryan, R. Doyle, D. St. John Coss, S. Junejo, C. A. Donnellan, M. A. Gosney, D. Clinch, D. Hilton, B. O’Malley, S. Albloushi, J. N. Lavan, M. G. Courtney, E. Hardiman, M. Bolger, S. Pooransingh, W. Flannery, C. O’Malley, E. M. Horkan, F. Lundstrom, R. Webster, M. Threadgold, R. Hamill, F. Tracey, J. G. McConnell, I. C. Taylor, E. Duggan, A. Murphy, S. J. Nelson, I. M. Rea, M. Ward, H. McNulty, A. O’Loughlin, D. M. Collas, C. Tannock, Z. Walker, C. Katona

Publikováno v: Irish Journal of Medical Science. 167:14-26

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c97267898f6be93ffd674900d12c6d83
https://doi.org/10.1007/bf02937213

Irish gerontological society

Autor: K-T. Khaw, J. E. Compston, S. Murphy, R. Lawlor, C. McGee, V. Hegarty, T. Scott, M. MacMahon, M. Healy, R. R. O’Moore, C. T. Keane, E. Mulvihill, H. Taggart, V. L. S. Crawford, F. Tracey, V. Crawford, D. O’Mahory, J. Coffey, D. Hamilton, P. Freyne, E. M. Keane, H. Wilson, A. Maher, D. McGrane, J. B. Walsh, D. Coakley, R. F. Coen, D. O’Mahony, C. A. O’Boyle, J. Browne, C. R. B. Joyce, D. O’Neill, G. K. Wilcock, Jane Crossin, J. O. M Mills, J. C. Collins, D. H. Gilmore, T. R. O. Beringer, M. Miller, C. M. Hyland, C. Twomey, E. M. Corcoran, A. Guerandel, M. Wrigley, H. Lee, P. J. Walsh, G. Hickey, J. Tyrrell, C. McCabe, E. Kelly, G. Swanwick, F. Ward, B. A. Lawlor, D. Moraes, P. M. E. McCormack, J. Feely, S. V. Jassal, S. C. Coulshed, J. F. Douglas, R. W. Stout, Nuala Kane, N. Keane, B. Brennan, S. Denholm, J. Fox, E. Herlihey, S. O’Keeffe, J. Noel, J. Lavan, S. Mclntosh, R. A. Kenny, J. Lawson, D. da Costa, G. Ford, E. Mulkerin, K. Rice, E. A. Freeman, C. B. Keyes, A. Hickey, D. Clinch, R. Liston, A. P. Passmore, C. M. Passmore, S. Copeland, R. W. tout, G. D. Johnston

Publikováno v: Irish Journal of Medical Science. 162:265-272

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3cab36b6641163b9c1e04fe980167c4b
https://doi.org/10.1007/bf02957576

Irish Gerontological Society

Autor: J. Cox, E. O’Brien, K. O’Malley, J. Kelly, P. McCullagh, H. Taggart, M. MacMahon, P. Brennan, H. Osborne, M. G. Courtney, P. G. Flanagan, P. J. Rooney, R. W. Stout, P. Finucane, D. G. Seymour, F. Vaz, E. Keane, A. Rochford, D. McGovern, D. Coakley, J. B. Walsh, D. O’Neill, S. Daly, A. O’Carroll, I. Rice, M. Crowe, D. Dunne, A. McBride, P. M. E. McCormack, D. ONeill, S. Smith, C. Moroney, C. Boyce, M. S. O’Mahony, C. M. Hyland, C. Twomey, Carmel Rosen, D. P. Conlon, S. A. Kilfeather, M. Rowan, D. Abraham, J. Feely, K. Mulpeter, B. Cullen, W. Wee, S. Gaine, R. England, J. Walsh, R. A. Kenny, P. Barr, D. O’Mahony, M. McKieman, M. Gibney, C. Flynn, P. Sloane, J. Kallen, P. Crowe, A. O’Brien, R. Johnson, J. Higgins, M. Boyle, C. Donnegan, J. S. Prichard

Publikováno v: Irish Journal of Medical Science. 159:117-122

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::18da6d1d6478617d1fc7a3f74b49c9bc
https://doi.org/10.1007/bf02937445

A single point mutation at a splice site generates a silent RH50 gene in a composite heterozygous RHnull blood donor

Autor: N M, Cowley, A, Saul, J, Cartron, C A, Hyland

Publikováno v: Vox sanguinis. 76(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35eeddbc719932cd4fc213dc462dd5fd
https://pubmed.ncbi.nlm.nih.gov/10394146