BetterScholar BetterScholar
14
Role
Title
Level Year L/R
๐Ÿœ An integrated map of genetic variation from 1,092 human genomes
483 auth. Gil A. McVean, David M. Altshuler (Co-Chair), Richard M. Durbin (Co-Chair), Gonรงalo R. Abecasis, D. Bentley, A. Chakravarti, A. Clark, P. Donnelly, Evan E. Eichler, Paul Flicek, S. Gabriel, Richard A. Gibbs, E. Green, M. Hurles, B. Knoppers, ... J. Korbel, E. Lander, Charles Lee, H. Lehrach, E. Mardis, Gabor T. Marth, Gil A. McVean, D. Nickerson, Jeanette Schmidt, S. Sherry, Jun Wang, R. Wilson, Richard A. Gibbs (Principal Investigator), H. Dinh, C. Kovar, Sandy Lee, L. Lewis, D. Muzny, Jeff G. Reid, Min Wang, Jun Wang (Principal Investigator), X. Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Guoqing Li, Jingxiang Li, Yingrui Li, Zhuo Li, Xiao Liu, Yao Lu, Xuedi Ma, Zheng Su, S. Tai, M. 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), D. Altshuler, Stacey B. Gabriel (Co-Chair), N. Gupta, Paul Flicek (Principal Investigator), Laura Clarke, R. Leinonen, Richard E. Smith, Xiangqun Zheng-Bradley, David R. Bentley (Principal Investigator), R. Grocock, S. Humphray, Terena James, Z. Kingsbury, Hans Lehrach (Principal Investigator), Ralf Sudbrak (Project Leader), Marcus W. Albrecht, V. Amstislavskiy, T. Borodina, M. Lienhard, F. Mertes, M. Sultan, B. Timmermann, M. 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), L. Fulton, R. Fulton, G. Weinstock, Richard M. Durbin (Principal Investigator), Senduran Balasubramaniam, J. Burton, P. Danecek, Thomas M. Keane, Anja Kolb-Kokocinski, Shane A. McCarthy, J. Stalker, Michael A. Quail, Jeanette P. Schmidt (Principal Investigator), C. J. Davies, J. Gollub, Teresa A. Webster, Brant Wong, Yiping Zhan, Adam Auton (Principal Investigator), Fuli Yu (Project Leader), M. Bainbridge, Danny Challis, U. S. Evani, James T. Lu, U. Nagaswamy, A. Sabo, Jin Yu, L. Coin, L. Fang, Qibin Li, Zhenyu Li, Haoxiang Lin, Binghang Liu, Ruibang Luo, Nan Qin, Haojing Shao, Yinlong Xie, C. 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), E. Banks, G. Bhatia, Mauricio O. Carneiro, G. Del Angel, G. Genovese, R. Handsaker, C. Hartl, S. Mccarroll, J. Nemesh, R. Poplin, S. Schaffner, Khalid Shakir, Seungtai C. Jayon Vladimir Yoon (Principal Investigator) Lihm Makarov, Seungtai C. Yoon (Principal Investigator), Jayon Lihm, Vladimir Makarov, Hanjun Wook Ki Jin (Principal Investigator) Kim Cheol Kim, Hanjun Jin (Principal Investigator), Wook Kim, Ki Cheol Kim, Jan O. Tobias Korbel (Principal Investigator) Rausch, Jan O. Korbel (Principal Investigator), T. Rausch, Kathryn M Beal, Fiona Cunningham, Javier Herrero, W. McLaren, G. Ritchie, Andrew G. Clark (Principal Investigator), S. Gottipati, A. Keinan, Juan L. Rodriguez-Flores, Pardis C. Sabeti (Principal Investigator), S. Grossman, S. Tabrizi, Ridhi Tariyal, David N. Edward V. Peter D. Cooper (Principal Investigator) Ball Stenson, David N. Cooper (Principal Investigator), E. Ball, P. Stenson, B. Barnes, Markus Bauer, R. Keira Cheetham, Tony Cox, M. Eberle, Scott D. Kahn, L. Murray, J. Peden, Richard Shaw, Kai Ye (Principal Investigator), Mark A. Miriam K. Jerilyn A. Batzer (Principal Investigator) Konkel Walker, Mark A. Batzer (Principal Investigator), Miriam K. Konkel, Jerilyn A. Walker, Daniel G. Monkol MacArthur (Principal Investigator) Lek, Daniel G. MacArthur (Principal Investigator), M. Lek, Vyacheslav S. Ralf Sudbrak (Project Leader) Amstislavskiy Herwig, Sudbrak (Project Leader), R. Herwig, Mark D. Shriver (Principal Investigator), Carlos D. Bustamante (Principal Investigator), Jake K. Byrnes, Francisco M. De La Vega, S. Gravel, E. Kenny, J. Kidd, P. Lacroute, B. K. Maples, A. Moreno-Estrada, Fouad Zakharia, Eran Yael Halperin (Principal Investigator) Baran, 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. Chunlin Sherry (Principal Investigator) Xiao, Chunlin Xiao, Jonathan Vineet Kenny Sebat (Principal Investigator) Bafna Ye, Jonathan Sebat (Principal Investigator), V. Bafna, Kenny Q. Ye, Esteban G. Burchard (Principal Investigator), Ryan D. Hernandez (Principal Investigator), Christopher R. Gignoux, David Haussler (Principal Investigator), Sol Katzman, W. James Kent, Bryan N. Howie, Andres Ruiz-Linares (Principal Investigator), Emmanouil T. Tuuli Dermitzakis (Principal Investigator) Lappalainen, Emmanouil T. Dermitzakis (Principal Investigator), T. Lappalainen, Scott E. Xinyue Ankit Luke J. Devine (Principal Investigator) Liu Maroo Tallon, Scott E. Devine (Principal Investigator), Xinyue Liu, A. Maroo, L. Tallon, Jeffrey A. Leslie P. Rosenfeld (Principal Investigator) Michelson, Jeffrey A. Rosenfeld (Principal Investigator), L. P. Michelson, Gonรงalo R. Abecasis (Principal Investigator) (Co-Chair), Hyun Min Kang (Project Leader), Paul Anderson, A. Angius, A. Bigham, T. Blackwell, F. Busonero, F. Cucca, C. Fuchsberger, Chris Jones, G. Jun, Yun Li, R. Lyons, A. Maschio, E. Porcu, F. Reinier, S. Sanna, D. Schlessinger, C. Sidore, Adrian Tan, Mary Kate Trost, Philip Alan Awadalla (Principal Investigator) Hodgkinson, Philip Awadalla (Principal Investigator), A. Hodgkinson, Gerton Lunter (Principal Investigator), Gil A. McVean (Principal Investigator) (Co-Chair), Jonathan L. Marchini (Principal Investigator), Simon Myers (Principal Investigator), C. Churchhouse, Olivier Delaneau, Anjali Gupta-Hinch, Z. Iqbal, I. Mathieson, A. Rimmer, Dionysia K. Xifara, Taras K. Oleksyk (Principal Investigator), Yunxin Xiaoming Momiao Fu (Principal Investigator) Liu Xiong, Yunxin Fu (Principal Investigator), Xiaoming Liu, Momiao Xiong, Lynn David Jinchuan Jorde (Principal Investigator) Witherspoon Xing, Lynn Jorde (Principal Investigator), D. Witherspoon, Jinchuan Xing, Evan E. Eichler (Principal Investigator), Brian L. Browning (Principal Investigator), C. Alkan, Iman Hajirasouliha, F. Hormozdiari, Arthur Ko, Peter H. Sudmant, Elaine R. Mardis (Co-Principal Investigator), Ken Chen, A. Chinwalla, L. Ding, D. Dooling, D. Koboldt, M. McLellan, J. Wallis, M. Wendl, Qunyuan Zhang, Matthew E. Hurles (Principal Investigator), Chris Tyler-Smith (Principal Investigator), C. A. Albers, Q. Ayub, Yuan Chen, A. Coffey, V. Colonna, N. Huang, L. Jostins, Heng Li, A. Scally, Klaudia Walter, Yali Xue, Yujun Zhang, Mark B. Gerstein (Principal Investigator), A. Abyzov, S. Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, L. Habegger, A. Harmanci, Mike Jin, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Yingrui Ruibang Hongmei Li Luo Zhu, Charles Lee (Principal Investigator) (Co-Chair), Steven A. McCarroll (Project Leader), Jeremiah D. Degenhardt, Jan O. Korbel (Principal Investigator) (Co-Chair), A. Stรผtz, David W. Nils Craig (Principal Investigator) Homer, Deanna Chunlin Church Xiao, D. Church, Jonathan Vineet Jacob J. Kenny Sebat (Principal Investigator) Bafna Michaelson Ye, J. Michaelson, David Jinchuan Witherspoon Xing, Evan E. Eichler (Principal Investigator) (Co-Chair), Ken Asif Li Michael D. John W. Chen Chinwalla Ding McLellan Wallis, Matthew E. Hurles (Principal Investigator) (Co-Chair), Benjamin P. Blackburne, S. Lindsay, Z. Ning, Mark B. Gerstein (Principal Investigator), Richard A. Gibbs (Principal Investigator) (Co-Chair), Xiaosen Yingrui Renhua Guo Li Wu, Gabor T. Marth (Principal Investigator) (Co-Chair), Guillermo Mark A. Stacey B. Namrata Chris Ryan E. del Angel DePristo Gabriel Gupta Hartl Poplin, M. DePristo, Andrew G. Juan L. Clark (Principal Investigator) Rodriguez-Flores, Carlos D. Simon Bustamante (Principal Investigator) Gravel, Gonรงalo R. Hyun Abecasis (Principal Investigator) Min Kang, Gonรงalo R. Abecasis (Principal Investigator), Hyun Min Kang, Elaine R. Mardis (Principal Investigator), F. Yu, Guillermo Robert E. del Angel Handsaker, Carlos D. Francisco M. Bustamante (Principal Investigator) De La Vega, David W. Ahmet A. Craig (Principal Investigator) Kurdoglu, Chris Tyler-Smith (Principal Investigator) (Co-Chair), A. Frankish, J. Harrow, Mark B. Gerstein (Principal Investigator) (Co-Chair), G. Fowler, Walker Hale, D. Kalra, Jun Xiaosen Guoqing Yingrui Xiaole Wang (Principal Investigator) Guo Li Li Zheng, Paul Flicek (Principal Investigator) (Co-Chair), Laura Clarke (Project Leader), Jonathan A. Barker, G. Kelman, Eugene Kulesha, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Ian Streeter, I. Toneva, Brendan W. Vaughan, David R. Tony Sean Scott Bentley (Principal Investigator) Cox Humphray Kahn, Ralf Marcus W. Matthias Sudbrak (Project Leader) Albrecht Lienhard, David W. Tyler Ahmet A. Craig (Principal Investigator) Izatt Kurdoglu, Stephen T. Sherry (Principal Investigator) (Co-Chair), Victor Ananiev, Zinaida Belaia, Dimitriy Beloslyudtsev, Nathan Bouk, Chao Chen, Robert Cohen, Charles Cook, John Garner, T. Hefferon, M. Kimelman, Chunlei Liu, John Lopez, Peter A. Meric, Christa O'Sullivan, Yu. G. Ostapchuk, Lon Phan, Sergiy Ponomarov, Valerie A. Schneider, Eugene M. Shekhtman, K. Sirotkin, D. Slotta, Hua Zhang, Can Arthur Alkan Ko, Aravinda Chakravarti (Co-Chair), Bartha M. Knoppers (Co-Chair), Gonรงalo R. Abecasis, K. Barnes, C. Beiswanger, E. Burchard, C. Bustamante, Hongyu Cai, H. Cao, R. Durbin, N. Gharani, Richard A. Gibbs, B. Henn, Danielle A. Jones, L. Jorde, J. Kaye, A. Kent, A. Kerasidou, R. Mathias, P. Ossorio, M. Parker, D. Reich, C. Rotimi, C. Royal, Karla Sandoval, Yeyang Su, R. Sudbrak, Zhongming Tian, S. Tishkoff, L. Toji, C. Tyler-Smith, M. Via, H. Yang, Ling Yang, Jia Zhu, Walter Bodmer, Gabriel Andres Bedoya Ruiz-Linares, G. Bedoya, A. Ruiz-Linares, Cai Gao Chu Zhi Ming Yang Jia You, Cai Zhi Ming, Gao Yang, Chu Jia You, L. Peltonen, Andres Alberto Garcia-Montero Orfao, A. Garcรญa-Montero, A. ร“rfรฃo, Julie Juan C. Taras K. Dutil Martinez-Cruzado Oleksyk, J. Dutil, J. Martรญnez-Cruzado, Taras K. Oleksyk, L. Brooks, A. Felsenfeld, J. Mcewen, Nicholas C. Clemm, A. Duncanson, Michael Dunn, M. Guyer, Jane L. Peterson, Gonรงalo R. Abecasis, A. Auton, Gabor T. Marth
12 2012
12
๐Ÿœ
๐Ÿฆ Twelve years of SAMtools and BCFtools
11 auth. P. Danecek, J. Bonfield, J. Liddle, J. Marshall, Valeriu Ohan, M. Pollard, ... Andrew Whitwham, Thomas M. Keane, Shane A. McCarthy, Robert M. Davies, Heng Li
12 2020
12
๐Ÿฆ
๐Ÿœ Mouse genomic variation and its effect on phenotypes and gene regulation
41 auth. Thomas M. Keane, L. Goodstadt, P. Danecek, Michael A. White, Kim Wong, B. Yalcin, A. Heger, A. Agam, G. Slater, Martin Goodson, N. Furlotte, E. Eskin, C. Nellรฅker, Helen Whitley, James Cleak, ... Deborah Janowitz, Polinka Hernandez-Pliego, Andrew Edwards, T. G. Belgard, Peter L. Oliver, R. McIntyre, A. Bhomra, J. Nicod, Xiangchao Gan, Wei Yuan, L. V. D. Weyden, C. Steward, Sendu Bala, J. Stalker, R. Mott, R. Durbin, Ian J. Jackson, A. Czechanski, J. A. Guerra-Assunรงรฃo, Leah Rae Donahue, L. Reinholdt, B. Payseur, C. Ponting, E. Birney, J. Flint, David John Adams
10 2011
10
๐Ÿœ
๐Ÿœ Reference-based phasing using the Haplotype Reference Consortium panel
12 auth. Po-Ru Loh, P. Danecek, P. Palamara, C. Fuchsberger, Yakir A Reshef, Hilary K Finucane, ... S. Schoenherr, L. Forer, Shane A. McCarthy, G. Abecasis, R. Durbin, Alkes L Price
10 2016
10
๐Ÿœ
๐Ÿœ The UK10K project identifies rare variants in health and disease
242 auth. Klaudia Walter, J. Min, Jie Huang, L. Crooks, Y. Memari, Shane A. McCarthy, J. Perry, Changjiang Xu, M. Futema, D. Lawson, V. Iotchkova, S. Schiffels, A. Hendricks, P. Danecek, Rui Li, ... J. Floyd, L. Wain, I. Barroso, S. Humphries, M. Hurles, E. Zeggini, J. Barrett, V. Plagnol, J. Brent Richards, C. Greenwood, N. Timpson, R. Durbin, N. Soranzo, Sendu Bala, P. Clapham, Guy Coates, Tony Cox, A. Daly, Yuanping Du, S. Edkins, Peter J. I. Ellis, Paul Flicek, Xiaosen Guo, Xueqin Guo, Liren Huang, D. Jackson, Chris Joyce, Thomas M. Keane, Anja Kolb-Kokocinski, C. Langford, Yingrui Li, Jieqin Liang, Hong Lin, Ryan Liu, J. Maslen, Dawn Muddyman, M. Quail, J. Stalker, Jianping Sun, Jing Tian, Guangbiao Wang, Jun Wang, Yu Wang, Kim Wong, Pingbo Zhang, E. Birney, C. Boustred, Lu Chen, Gail P. Clement, M. Cocca, G. Davey Smith, I. Day, A. Day-Williams, T. Down, I. Dunham, David M. Evans, Tom R. Gaunt, Matthias Geihs, D. Hart, Bryan N. Howie, T. Hubbard, P. Hysi, Y. Jamshidi, K. Karczewski, J. Kemp, G. Lachance, M. Lek, Margarida C. Lopes, D. MacArthur, J. Marchini, M. Mangino, I. Mathieson, S. Metrustry, A. Moayyeri, K. Northstone, K. Panoutsopoulou, L. Paternoster, L. Quaye, S. Ring, G. Ritchie, Hashem A. Shihab, So-Youn Shin, K. Small, M. Soler Artigas, L. Southam, T. Spector, Beate St Pourcain, G. Surdulescu, I. Tachmazidou, M. Tobin, A. Valdes, P. Visscher, K. Ward, Scott G Wilson, Jian Yang, Feng Zhang, Houfeng Zheng, R. Anney, M. Ayub, D. Blackwood, P. Bolton, G. Breen, D. Collier, N. Craddock, S. Curran, D. Curtis, L. Gallagher, Daniel H. Geschwind, H. Gurling, P. Holmans, Irene O. Lee, J. Lรถnnqvist, P. McGuffin, A. McIntosh, A. McKechanie, A. McQuillin, James A. Morris, M. Oโ€™Donovan, M. Owen, A. Palotie, J. Parr, T. Paunio, O. Pietilainen, K. Rehnstrรถm, Sally Sharp, D. Skuse, D. St. Clair, J. Suvisaari, J. Walters, H. Williams, E. Bochukova, R. Bounds, A. Dominiczak, I. Farooqi, J. Keogh, G. Marenne, Andrew P Morris, S. Oโ€™Rahilly, D. Porteous, Blair H. Smith, E. Wheeler, Saeed H. Al Turki, C. Anderson, D. Antony, Phil Beales, J. Bentham, S. Bhattacharya, M. Calissano, K. Carss, K. Chatterjee, S. ร‡ฤฑrak, Catherine Cosgrove, D. FitzPatrick, A. Reghan Foley, C. Franklin, D. Grozeva, H. Mitchison, F. Muntoni, A. Onoufriadis, V. Parker, F. Payne, F. Lucy Raymond, N. Roberts, D. Savage, P. Scambler, M. Schmidts, N. Schoenmakers, R. Semple, E. Serra, O. Spasic-Boskovic, E. Stevens, M. van Kogelenberg, Parthiban Vijayarangakannan, K. Williamson, Crispian Wilson, T. Whyte, A. Ciampi, K. Oualkacha, M. Bobrow, Heather Griffin, J. Kaye, Karen L Kennedy, A. Kent, C. Smee, R. Charlton, R. Ekong, Farrah Khawaja, L. Lopes, N. Migone, S. Payne, R. Pollitt, S. Povey, C. Ridout, R. Robinson, Richard H. Scott, A. Shaw, P. Syrris, Rohan Taylor, A. Vandersteen, A. Amuzu, J. Pablo Casas, J. Chambers, G. Dedoussis, G. Gambaro, P. Gasparini, A. Isaacs, Jon Johnson, M. Kleber, J. Kooner, C. Langenberg, J. Luan, G. Malerba, W. Mรคrz, Angela Matchan, RichardJ. Morris, B. Nordestgaard, M. Benn, Robert A. Scott, D. Toniolo, M. Traglia, A. Tybjaerg-hansen, C. V. van Duijn, E. V. van Leeuwen, A. Varbo, P. Whincup, G. Zaza, Weihua Zhang
9 2015
9
๐Ÿœ
๐Ÿœ Insights into human genetic variation and population history from 929 diverse genomes
21 auth. Anders Bergstrรถm, Shane A. McCarthy, Ruoyun Hui, M. Almarri, Q. Ayub, P. Danecek, Yuan Chen, S. Felkel, P. Hallast, J. Kamm, ... H. Blanchรฉ, J. Deleuze, H. Cann, Swapan Mallick, D. Reich, M. Sandhu, P. Skoglund, A. Scally, Yali Xue, R. Durbin, C. Tyler-Smith
9 2019
9
๐Ÿœ
๐Ÿฌ BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data
Vagheesh M. Narasimhan, P. Danecek, A. Scally, Yali Xue, C. Tyler-Smith, R. Durbin
9 2016
9
๐Ÿฌ
๐Ÿœ Common genetic variation drives molecular heterogeneity in human iPSCs
43 auth. H. Kilpinen, ร‚ngela Gonรงalves, Andreas Leha, Vackar Afzal, Kaur Alasoo, Sofie Ashford, Sendu Bala, D. Bensaddek, F. P. Casale, Oliver J. Culley, P. Danecek, Adam Faulconbridge, Peter W. Harrison, A. Kathuria, Davis J. McCarthy, ... Shane A. McCarthy, Ruta Meleckyte, Y. Memari, N. Moens, Filipa A. C. Soares, Alice L. Mann, Ian Streeter, Chukwuma A. Agu, A. Alderton, Rachel Nelson, S. Harper, Minal J. Patel, Alistair White, Sharad R. Patel, Laura Clarke, Reena Halai, C. Kirton, Anja Kolb-Kokocinski, P. Beales, E. Birney, D. Danovi, A. Lamond, W. Ouwehand, L. Vallier, F. Watt, R. Durbin, O. Stegle, Daniel J. Gaffney
8 2017
8
๐Ÿœ
๐Ÿœ Evidence for 28 genetic disorders discovered by combining healthcare and research data
281 auth. J. Kaplanis, K. Samocha, L. Wiel, Zhancheng Zhang, Kevin J. Arvai, R. Y. Eberhardt, G. Gallone, Stefan H. Lelieveld, H. Martin, J. McRae, Patrick J. Short, R. Torene, E. de Boer, P. Danecek, E. Gardner, ... N. Huang, J. Lord, I. Martincorena, R. Pfundt, Margot R. F. Reijnders, A. Yeung, H. Yntema, Silvia Borras, C. Clark, J. Dean, Z. Miedzybrodzka, A. Ross, S. Tennant, T. Dabir, D. Donnelly, M. Humphreys, A. Magee, V. Mcconnell, S. McKee, S. McNerlan, P. Morrison, Gillian Rea, F. Stewart, T. Cole, N. Cooper, Lisa Cooper-Charles, H. Cox, L. Islam, J. Jarvis, Rebecca Keelagher, D. Lim, D. McMullan, J. Morton, S. Naik, M. O'Driscoll, K. Ong, D. Osio, N. Ragge, Sarah E Turton, J. Vogt, Denise Williams, S. Bodek, A. Donaldson, A. Hills, K. Low, R. Newbury-Ecob, A. Norman, E. Roberts, I. Scurr, S. Smithson, Madeleine J Tooley, S. Abbs, R. Armstrong, C. Dunn, S. Holden, Soo-Mi Park, J. Paterson, L. Raymond, E. Reid, R. Sandford, I. Simonic, M. Tischkowitz, G. Woods, L. Bradley, Joanne Comerford, A. Green, S. Lynch, S. McQuaid, B. Mullaney, J. Berg, D. Goudie, Eleni Mavrak, Joanne McLean, C. Mcwilliam, E. Reavey, T. Azam, Elaine M. Cleary, Andrew Jackson, W. Lam, A. Lampe, D. Moore, M. Porteous, E. Baple, J. Baptista, C. Brewer, B. Castle, E. Kivuva, M. Owens, J. Rankin, C. Shaw-Smith, C. Turner, P. Turnpenny, C. Tysoe, T. Bradley, R. Davidson, C. Gardiner, S. Joss, E. Kinning, C. Longman, R. McGowan, V. Murday, D. Pilz, E. Tobias, M. Whiteford, N. Williams, A. Barnicoat, E. Clement, F. Faravelli, J. Hurst, L. Jenkins, W. Jones, V. K. A. Kumar, M. Lees, S. Loughlin, Alison M. Male, D. Morrogh, E. Rosser, R. Scott, L. Wilson, A. Beleza, C. Deshpande, F. Flinter, M. Holder, M. Irving, L. Izatt, D. Josifova, S. Mohammed, Aneta Molenda, L. Robert, W. Roworth, D. Ruddy, Mina Ryten, S. Yau, C. Bennett, Moira Blyth, Jennifer Campbell, A. Coates, A. Dobbie, S. Hewitt, E. Hobson, Eilidh Jackson, Rosalyn Jewell, A. Kraus, K. Prescott, Eamonn Sheridan, J. Thomson, Kirsty Bradshaw, A. Dixit, J. Eason, R. Haines, R. Harrison, Stacey Mutch, A. Sarkar, C. Searle, N. Shannon, A. Sharif, M. Suri, P. Vasudevan, N. Canham, I. Ellis, L. Greenhalgh, Emma Howard, V. Stinton, Andrew Swale, A. Weber, S. Banka, Catherine Breen, T. Briggs, E. Burkitt-Wright, K. Chandler, J. Clayton-Smith, D. Donnai, S. Douzgou, L. Gaunt, E. Jones, B. Kerr, Claire Langley, K. Metcalfe, Audrey Smith, R. Wright, D. Bourn, J. Burn, R. Fisher, S. Hellens, A. Henderson, T. Montgomery, M. Splitt, Volker Straub, Michael Wright, S. Zwolinski, Zoe Allen, B. Bernhard, A. Brady, Claire Brooks, Louise Busby, V. Clowes, N. Ghali, S. Holder, Rita Ibitoye, E. Wakeling, Edward Blair, J. Carmichael, D. Cilliers, S. Clasper, Richard J. Gibbons, U. Kini, T. Lester, Andrea M. Nemeth, J. Poulton, S. Price, D. Shears, H. Stewart, Andrew Wilkie, S. Albaba, Duncan Baker, M. Balasubramanian, Diana S. Johnson, M. Parker, O. Quarrell, A. Stewart, J. Willoughby, C. Crosby, F. Elmslie, T. Homfray, Huilin Jin, N. Lahiri, S. Mansour, K. Marks, M. McEntagart, A. Saggar, K. Tatton-Brown, R. Butler, A. Clarke, S. Corrin, A. Fry, Arveen Kamath, E. McCann, H. Mugalaasi, C. Pottinger, A. Procter, J. Sampson, F. Sansbury, V. Varghese, D. Baralle, A. Callaway, Emma-Jane Cassidy, Stacey Daniels, A. Douglas, N. Foulds, D. Hunt, Mira Kharbanda, K. Lachlan, C. Mercer, L. Side, I. Temple, D. Wellesley, L. Vissers, J. Juusola, C. Wright, H. Brunner, H. Firth, D. FitzPatrick, J. Barrett, M. Hurles, C. Gilissen, K. Retterer
8 2020
8
๐Ÿœ
๐Ÿœ Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
239 auth. Jie Huang, Bryan N. Howie, Shane A. McCarthy, Y. Memari, Klaudia Walter, J. Min, P. Danecek, G. Malerba, E. Trabetti, Houfeng Zheng, Saeed H. Al Turki, A. Amuzu, C. Anderson, R. Anney, D. Antony, ... M. Artigas, Muhammad Ayub, Sendu Bala, J. Barrett, I. Barroso, Phil Beales, M. Benn, J. Bentham, S. Bhattacharya, E. Birney, D. Blackwood, M. Bobrow, E. Bochukova, P. Bolton, R. Bounds, C. Boustred, G. Breen, M. Calissano, K. Carss, J. Pablo Casas, J. Chambers, R. Charlton, Krishna Chatterjee, Lu Chen, A. Ciampi, S. ร‡ฤฑrak, P. Clapham, Gail P. Clement, Guy Coates, M. Cocca, D. Collier, Catherine Cosgrove, Tony Cox, N. Craddock, L. Crooks, S. Curran, D. Curtis, A. Daly, I. Day, A. Day-Williams, G. Dedoussis, T. Down, Yuanping Du, C. V. van Duijn, I. Dunham, S. Edkins, R. Ekong, Peter J. I. Ellis, David M. Evans, I. Farooqi, D. FitzPatrick, Paul Flicek, J. Floyd, A. Foley, C. Franklin, M. Futema, L. Gallagher, Paolo Gasparini, Tom R. Gaunt, Matthias Geihs, Daniel H. Geschwind, C. Greenwood, Heather Griffin, D. Grozeva, Xiaosen Guo, Xueqin Guo, H. Gurling, D. Hart, A. Hendricks, P. Holmans, Liren Huang, T. Hubbard, S. Humphries, M. Hurles, P. Hysi, V. Iotchkova, A. Isaacs, D. Jackson, Y. Jamshidi, Jon Johnson, Chris Joyce, K. Karczewski, J. Kaye, Thomas M. Keane, J. Kemp, Karen L Kennedy, A. Kent, J. Keogh, Farrah Khawaja, M. Kleber, M. van Kogelenberg, Anja Kolb-Kokocinski, J. Kooner, G. Lachance, C. Langenberg, C. Langford, D. Lawson, Irene O. Lee, E. V. van Leeuwen, M. Lek, Rui Li, Yingrui Li, Jieqin Liang, Hong Lin, Ryan Liu, J. Lรถnnqvist, L. Lopes, Margarida C. Lopes, J. Luan, D. MacArthur, M. Mangino, G. Marenne, Winfried Mรคrz, J. Maslen, Angela Matchan, I. Mathieson, P. McGuffin, A. McIntosh, A. McKechanie, A. McQuillin, S. Metrustry, N. Migone, H. Mitchison, A. Moayyeri, James A. Morris, RichardJ. Morris, Dawn Muddyman, Francesco Muntoni, B. Nordestgaard, K. Northstone, M. Oโ€™Donovan, S. Oโ€™Rahilly, A. Onoufriadis, K. Oualkacha, M. Owen, A. Palotie, K. Panoutsopoulou, V. Parker, J. Parr, L. Paternoster, T. Paunio, F. Payne, S. Payne, J. Perry, O. Pietilainen, V. Plagnol, R. Pollitt, S. Povey, M. Quail, L. Quaye, L. Raymond, K. Rehnstrรถm, C. Ridout, S. Ring, G. Ritchie, N. Roberts, R. Robinson, D. Savage, P. Scambler, S. Schiffels, M. Schmidts, N. Schoenmakers, Richard H. Scott, Robert A. Scott, R. Semple, E. Serra, Sally Sharp, A. Shaw, Hashem A. Shihab, So-Youn Shin, D. Skuse, K. Small, C. Smee, G. D. Smith, L. Southam, O. Spasic-Boskovic, T. Spector, D. St. Clair, Beate St Pourcain, J. Stalker, E. Stevens, Jianping Sun, G. Surdulescu, J. Suvisaari, P. Syrris, I. Tachmazidou, Rohan Taylor, Jinghong Tian, M. Tobin, D. Toniolo, M. Traglia, A. Tybjaerg-hansen, A. Valdes, A. Vandersteen, A. Varbo, Parthiban Vijayarangakannan, P. Visscher, L. Wain, J. Walters, Guangbiao Wang, Jun Wang, Yu Wang, K. Ward, E. Wheeler, P. Whincup, T. Whyte, H. Williams, K. Williamson, Crispian Wilson, Scott G Wilson, Kim Wong, Changjiang Xu, Jian Yang, G. Zaza, E. Zeggini, Feng Zhang, Pingbo Zhang, Weihua Zhang, G. Gambaro, J. B. Richards, R. Durbin, N. Timpson, J. Marchini, N. Soranzo
8 2015
8
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๐Ÿฆ BCFtools/csq: haplotype-aware variant consequences
P. Danecek, Shane A. McCarthy
8 2016
8
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๐Ÿœ HTSlib: C library for reading/writing high-throughput sequencing data
8 auth. J. Bonfield, J. Marshall, P. Danecek, Heng Li, Valeriu Ohan, Andrew Whitwham, ... Thomas M. Keane, Robert M. Davies
7 2021
7
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๐Ÿœ An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
96 auth. K. Boldt, J. van Reeuwijk, Q. Lu, K. Koutroumpas, Thanh-Minh T. Nguyen, Y. Texier, S. V. van Beersum, N. Horn, J. Willer, D. Mans, G. Dougherty, Ideke J. C. Lamers, K. Coene, H. Arts, M. Betts, ... T. Beyer, Emine Bolat, C. Gloeckner, K. Haidari, L. Hetterschijt, Daniela Iaconis, D. Jenkins, Franziska Klose, B. Knapp, B. Latour, S. Letteboer, C. Marcelis, D. Mitic, M. Morleo, M. Oud, M. Riemersma, S. Rix, P. Terhal, G. Toedt, Teunis J. P. van Dam, E. de Vrieze, Yasmin Wissinger, Kaman Wu, G. Apic, P. Beales, O. Blacque, T. Gibson, M. Huynen, N. Katsanis, H. Kremer, H. Omran, E. van Wijk, U. Wolfrum, F. Kรฉpรจs, E. Davis, B. Franco, R. Giles, M. Ueffing, R. Russell, R. Roepman, S. Al-Turki, Carl Anderson, D. Antony, I. Barroso, J. Bentham, S. Bhattacharya, K. Carss, K. Chatterjee, S. ร‡ฤฑrak, Catherine Cosgrove, P. Danecek, R. Durbin, David Fitzpatrick, J. Floyd, A. Reghan Foley, C. Franklin, M. Futema, S. Humphries, M. Hurles, Chris Joyce, Shane A. McCarthy, H. Mitchison, Dawn Muddyman, Francesco Muntoni, S. Oโ€™Rahilly, A. Onoufriadis, F. Payne, V. Plagnol, L. Raymond, D. Savage, P. Scambler, M. Schmidts, N. Schoenmakers, Robert B. Semple, E. Serra, J. Stalker, M. van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, R. Whittall, K. Williamson
7 2016
7
๐Ÿœ
๐Ÿœ Sixteen diverse laboratory mouse reference genomes define strain specific haplotypes and novel functional loci
59 auth. Jingtao Lilue, A. Doran, Ian T. Fiddes, M. Abrudan, J. Armstrong, Ruth Bennett, W. Chow, Joanna Collins, Stephan C. Collins, A. Czechanski, P. Danecek, M. Diekhans, Dirk Dolle, M. Dunn, R. Durbin, ... Dent Earl, A. Ferguson-Smith, Paul Flicek, J. Flint, A. Frankish, B. Fu, M. Gerstein, J. Gilbert, L. Goodstadt, J. Harrow, K. Howe, Ximena Ibarra-Soria, M. Kolmogorov, C. Lelliott, D. Logan, J. Loveland, C. Mathews, R. Mott, Paul Muir, Stefanie Nachtweide, Fรกbio C. P. Navarro, D. Odom, Naomi R. Park, S. Pelan, Son K. Pham, M. Quail, L. Reinholdt, Lars Romoth, Lesley M Shirley, Cristina Sisu, Marcela Sjoberg-Herrera, M. Stanke, C. Steward, Mark Thomas, Glen Threadgold, David Thybert, J. Torrance, Kim Wong, J. Wood, B. Yalcin, Fengtang Yang, D. Adams, B. Paten, Thomas M. Keane
7 2018
7
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