Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Tom, Blackwell"'
Autor:
Heming Wang, Nuzulul Kurniansyah, Brian E. Cade, Matthew O. Goodman, Han Chen, Daniel J. Gottlieb, Sina A. Gharib, Shaun M. Purcell, Xihong Lin, Richa Saxena, Xiaofeng Zhu, Peter Durda, Russel Tracy, Yongmei Liu, Kent D. Taylor, W. Craig Johnson, Stacey Gabriel, Joshua D. Smith, François Aguet, Kirstin Ardlie, Tom Blackwell, Alexander P. Reiner, Jerome I. Rotter, Stephen S. Rich, TOPMed Sleep Traits Working Group, Susan Redline, Tamar Sofer
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Obstructive sleep apnea (OSA) is a common disorder associated with increased risk of cardiovascular disease and mortality. Iron and heme metabolism, implicated in ventilatory control and OSA comorbidities, was associated with OSA phenotypes
Externí odkaz:
https://doaj.org/article/62b4f545db4c4e05b989b6e8ef7f69e8
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
Autor:
Jonas B. Nielsen, Oren Rom, Ida Surakka, Sarah E. Graham, Wei Zhou, Tanmoy Roychowdhury, Lars G. Fritsche, Sarah A. Gagliano Taliun, Carlo Sidore, Yuhao Liu, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, William Overton, Ying Zhao, Jin Chen, He Zhang, Whitney E. Hornsby, Akua Acheampong, Austen Grooms, Amanda Schaefer, Gregory J. M. Zajac, Luis Villacorta, Jifeng Zhang, Ben Brumpton, Mari Løset, Vivek Rai, Pia R. Lundegaard, Morten S. Olesen, Kent D. Taylor, Nicholette D. Palmer, Yii-Der Chen, Seung H. Choi, Steven A. Lubitz, Patrick T. Ellinor, Kathleen C. Barnes, Michelle Daya, Nicholas Rafaels, Scott T. Weiss, Jessica Lasky-Su, Russell P. Tracy, Ramachandran S. Vasan, L. Adrienne Cupples, Rasika A. Mathias, Lisa R. Yanek, Lewis C. Becker, Patricia A. Peyser, Lawrence F. Bielak, Jennifer A. Smith, Stella Aslibekyan, Bertha A. Hidalgo, Donna K. Arnett, Marguerite R. Irvin, James G. Wilson, Solomon K. Musani, Adolfo Correa, Stephen S. Rich, Xiuqing Guo, Jerome I. Rotter, Barbara A. Konkle, Jill M. Johnsen, Allison E. Ashley-Koch, Marilyn J. Telen, Vivien A. Sheehan, John Blangero, Joanne E. Curran, Juan M. Peralta, Courtney Montgomery, Wayne H-H Sheu, Ren-Hua Chung, Karen Schwander, Seyed M. Nouraie, Victor R. Gordeuk, Yingze Zhang, Charles Kooperberg, Alexander P. Reiner, Rebecca D. Jackson, Eugene R. Bleecker, Deborah A. Meyers, Xingnan Li, Sayantan Das, Ketian Yu, Jonathon LeFaive, Albert Smith, Tom Blackwell, Daniel Taliun, Sebastian Zollner, Lukas Forer, Sebastian Schoenherr, Christian Fuchsberger, Anita Pandit, Matthew Zawistowski, Sachin Kheterpal, Chad M. Brummett, Pradeep Natarajan, David Schlessinger, Seunggeun Lee, Hyun Min Kang, Francesco Cucca, Oddgeir L. Holmen, Bjørn O. Åsvold, Michael Boehnke, Sekar Kathiresan, Goncalo R. Abecasis, Y. Eugene Chen, Cristen J. Willer, Kristian Hveem
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Drugs targeting cardiovascular disease (CVD) can have negative consequences for liver function. Here, the authors combine genome wide analyses on 69,479 individuals to identify loss-of-function variants with beneficial effects on CVD-related traits w
Externí odkaz:
https://doaj.org/article/2eecf9230b454b46b95b45b0f20ddd2e
Autor:
Ryan Schubert, Elyse Geoffroy, Isabelle Gregga, Ashley J. Mulford, Francois Aguet, Kristin Ardlie, Robert Gerszten, Clary Clish, David Van Den Berg, Kent D. Taylor, Peter Durda, W. Craig Johnson, Elaine Cornell, Xiuqing Guo, Yongmei Liu, Russell Tracy, Matthew Conomos, Tom Blackwell, George Papanicolaou, Tuuli Lappalainen, Anna V. Mikhaylova, Timothy A. Thornton, Michael H. Cho, Christopher R. Gignoux, Leslie Lange, Ethan Lange, Stephen S. Rich, Jerome I. Rotter, NHLBI TOPMed Consortium, Ani Manichaikul, Hae Kyung Im, Heather E. Wheeler
Publikováno v:
PLoS ONE, Vol 17, Iss 2 (2022)
Genetically regulated gene expression has helped elucidate the biological mechanisms underlying complex traits. Improved high-throughput technology allows similar interrogation of the genetically regulated proteome for understanding complex trait mec
Externí odkaz:
https://doaj.org/article/1c31951b7a40468b853b12770596b9bf
Autor:
Megha Talati, Haitham Mutlak, Kirk B. Lane, Wei Han, Anna Hemnes, Outi Mutlak, Tom Blackwell, Rinat Zaynagetdinov, Timothy S. Blackwell, James West
Publikováno v:
Diseases, Vol 2, Iss 2, Pp 148-167 (2014)
Aim: The present study investigates the role of NF-κB in Bmpr2-related pulmonary hypertension (PH) using a murine model of PH with inducible overexpression of a cytoplasmic tail Bmpr2 mutation. Methods and Results: Electrophoretic mobility shift ass
Externí odkaz:
https://doaj.org/article/df81727870de4bbc8cebe6c5402aeeca
Autor:
Megha Talati, James West, Rinat Zaynagetdinov, Charles C Hong, Wei Han, Tom Blackwell, Linda Robinson, Timothy S Blackwell, Kirk Lane
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94119 (2014)
Pulmonary arterial hypertension (PAH) is a disease of progressively increasing pulmonary vascular resistance, associated with mutations of the type 2 receptor for the BMP pathway, BMPR2. The canonical signaling pathway for BMPR2 is through the SMAD f
Externí odkaz:
https://doaj.org/article/08156025a98f4e33bd178f47388b0811
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
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
https://www.nature.com/articles/nature15393
Publikováno v:
Genetic epidemiology. 37(6)
In genome-wide association studies of binary traits, investigators typically use logistic regression to test common variants for disease association within studies, and combine association results across studies using meta-analysis. For common varian
Autor:
Jonathan R, Studnek, Lars, Thestrup, Steve, Vandeventer, Steven R, Ward, Kevin, Staley, Lee, Garvey, Tom, Blackwell
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Academic emergency medicine : official journal of the Society for Academic Emergency Medicine. 17(9)
The benefit of prehospital endotracheal intubation (ETI) among individuals experiencing out-of-hospital cardiac arrest (OOHCA) has not been fully examined. The objective of this study was to determine if prehospital ETI attempts were associated with
Autor:
Gabor T, Marth, Fuli, Yu, Amit R, Indap, Kiran, Garimella, Simon, Gravel, Wen Fung, Leong, Chris, Tyler-Smith, Matthew, Bainbridge, Tom, Blackwell, Xiangqun, Zheng-Bradley, Yuan, Chen, Danny, Challis, Laura, Clarke, Edward V, Ball, Kristian, Cibulskis, David N, Cooper, Bob, Fulton, Chris, Hartl, Dan, Koboldt, Donna, Muzny, Richard, Smith, Carrie, Sougnez, Chip, Stewart, Alistair, Ward, Jin, Yu, Yali, Xue, David, Altshuler, Carlos D, Bustamante, Andrew G, Clark, Mark, Daly, Mark, DePristo, Paul, Flicek, Stacey, Gabriel, Elaine, Mardis, Aarno, Palotie, Richard, Gibbs, Reed A, Cartwright
Publikováno v:
Genome Biology
Background Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on small population samples. Recent studies show that variants altering amino acid sequence and pro