Zobrazeno 1 - 10 of 26 pro vyhledávání: '"UK10K"'
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Akademický článek
Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
Autor: Sejoon Lee, Jinho Kim, Jung Hun Ohn
Publikováno v: BMC Genomics, Vol 24, Iss 1, Pp 1-13 (2023)
Abstract Objectives We performed comprehensive association analyses of common high-confidence gnomAD-reported copy number deletions (CNDs) with 60 quantitative traits from UK10K consortium WGS data. Methods The study made use of data generated by the
Externí odkaz: https://doaj.org/article/43b834483563412c87c4fe47c4637fbc
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2
Akademický článek
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3
Akademický článek
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5
Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
Autor: Marcus E. Kleber, Lu Chen, Farmaki A-E., Tom R. Gaunt, C.M. van Duijn, Gianluigi Zaza, Charles Kooperberg, Abbas Dehghan, Oscar H. Franco, Jian'an Luan, Matthew T. Maurano, Mattia Frontini, Nicole Soranzo, Giovanni Malerba, George Dedoussis, Tao Jiang, Heather Elding, Michela Traglia, Raha Pazoki, Robert A. Scott, Maria Sabater-Lleal, Mattias Frånberg, J L Min, Daniela Toniolo, Valentina Iotchkova, Paul L. Auer, Adam S. Butterworth, E. C. M. van Leeuwen, Daniel Mead, Christopher S. Franklin, Anders Hamsten, Yasin Memari, André G. Uitterlinden, William J. Astle, Lorraine Southam, Claudia Langenberg, Jie Huang, Massimiliano Cocca, Fernando Rivadeneira, Alexander P. Reiner, Patrick Deelen, John A. Morris, Giovanni Gambaro, Ioanna Ntalla, Aaron Isaacs, Genevieve Lachance, Winfried März, N J Timpson, Perry Jrb., Kalliope Panoutsopoulou, Najaf Amin, Hugh Watkins, Albert Hofman, John C. Chambers, Lude Franke, Eleftheria Zeggini, Weihua Zhang, Shin S-Y., Caterina Barbieri, Deepti Jain, Bengt Sennblad, Angela Matchan, Jaspal S. Kooner, Klaudia Walter, Morris A. Swertz, Paolo Gasparini, F van Dijk
Correction to: Nature Genetics https://doi.org/10.1038/ng.3668, published online 26 September 2016. In the version of the article published, the surname of author Aaron Isaacs is misspelled as Issacs.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d74ed7ba52e019d67541409b4c744648
http://hdl.handle.net/10044/1/71879
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6
Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits
Autor: Graham R. S. Ritchie, Massimiliano Cocca, Anette Varbo, Nicholas J. Timpson, George Dedoussis, Michael Boehnke, Marjolein N. Kooijman, Beate St Pourcain, Yasin Memari, André G. Uitterlinden, Andrew A Crawford, Eleftheria Zeggini, Fernando Rivadeneira, Satu Männistö, Caroline L Relton, Yali Xue, Petr Danecek, Kalliope Panoutsopoulou, Albert Hofman, George Davey Smith, María Soler Artigas, Michela Traglia, Josine L. Min, Weihua Zhang, Janine F. Felix, Christopher J Hammond, Claudia Langenberg, Jie Huang, Brian R. Walker, Narinder Bansal, Nigel W. Rayner, Emanuele Di Angelantonio, Kerrin S. Small, Konstantinos Hatzikotoulas, Cecilia M. Lindgren, Alisa K. Manning, Shane A. McCarthy, Susan M. Ring, Marcus E. Kleber, Abhishek Nag, Oliver Stegle, Paul Burton, Oscar H. Franco, William R. Scott, Carolina Medina-Gomez, Valentina Iotchkova, John R. B. Perry, Alireza Moayyeri, Lavinia Paternoster, Marianne Benn, Markus Perola, Katerina Trajanoska, Inês Barroso, Audrey E. Hendricks, Cinzia Sala, Carlo Sidore, Celia M. T. Greenwood, Jeremy Schwartzentruber, Richard Durbin, Cristina Bombieri, Klaudia Walter, Wei-Yu Lin, Hashem A. Shihab, Gialuigi Zaza, Jaspal S. Kooner, Magdalena Zoledziewska, Angela Matchan, Adam S. Butterworth, Pekka Jousilahti, Julia Steinberg, Anne Tybjærg-Hansen, John P. Kemp, Daniel Suveges, Nicole Soranzo, Chris Finan, Veikko Salomaa, Ioanna Ntalla, Nicholas J. Wareham, Adam E. Locke, Vincent W. V. Jaddoe, Ioanna Tachmazidou, Daniela Toniolo, Scott Wilson, Antonella Mulas, Aliki-Eleni Farmaki, Lorraine Southam, Martin D. Tobin, Tom R. Gaunt, Zhongsheng Chen, Paolo Gasparini, Andrew P. Morris, Giovanni Gambaro, John C. Chambers, Børge G. Nordestgaard, Sarah Metrustry, Benjamin Lehne, Jian'an Luan, Giovanni Malerba, Robert A. Scott, Mark I. McCarthy, Michal Szpak, Francesco Cucca, Tim D. Spector
Publikováno v: American Journal of Human Genetics, 100(6), 865-884. Cell Press
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, McCarthy, S, Crawford, A A, Bombieri, C, Cocca, M, Farmaki, A-E, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-Gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W-Y, Locke, A, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-Hansen, A, Varbo, A, Zoledziewska, M, Finan, C, Hatzikotoulas, K, Hendricks, A E, Kemp, J P, Moayyeri, A, Panoutsopoulou, K, Szpak, M, Wilson, S G, Boehnke, M, Cucca, F, Di Angelantonio, E, Langenberg, C, Lindgren, C, McCarthy, M I, Morris, A P, Nordestgaard, B G, Scott, R A, Tobin, M D, Wareham, N J, Burton, P, Chambers, J C, Smith, G D, Dedoussis, G, Felix, J F, Franco, O H, Gambaro, G, Gasparini, P, Hammond, C J, Hofman, A, Jaddoe, V W V, Kleber, M, Kooner, J S, Perola, M, Relton, C, Ring, S M, Rivadeneira, F, Salomaa, V, Spector, T D, Stegle, O, Toniolo, D, Uitterlinden, A G, Barroso, I, Greenwood, C M T, Perry, J R B, Walker, B R, Butterworth, A S, Xue, Y, Durbin, R, Small, K S, Soranzo, N, Timpson, N J, Zeggini, E & Bansal, N 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865-884 . https://doi.org/10.1016/j.ajhg.2017.04.014
The American Journal of Human Genetics
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, McCarthy, S, Crawford, A J, Bombieri, C, Cocca, M, Farmaki, A-E, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-Gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W-Y, Locke, A E, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-Hansen, A, Nordestgaard, B G & SpiroMeta Consortium 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865-884 . https://doi.org/10.1016/j.ajhg.2017.04.014
AMERICAN JOURNAL OF HUMAN GENETICS
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, Mccarthy, S, Crawford, A A, Bombieri, C, Cocca, M, Farmaki, A, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W, Locke, A, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-hansen, A, Varbo, A, Zoledziewska, M, Finan, C, Hatzikotoulas, K, Hendricks, A E, Kemp, J P, Moayyeri, A, Panoutsopoulou, K, Szpak, M, Wilson, S G, Boehnke, M, Cucca, F, Di Angelantonio, E, Langenberg, C, Lindgren, C, Mccarthy, M I, Morris, A P, Nordestgaard, B G, Scott, R A, Tobin, M D, Wareham, N J, Burton, P, Chambers, J C, Smith, G D, Dedoussis, G, Felix, J F, Franco, O H, Gambaro, G, Gasparini, P, Hammond, C J, Hofman, A, Jaddoe, V W V, Kleber, M, Kooner, J S, Perola, M, Relton, C, Ring, S M, Rivadeneira, F, Salomaa, V, Spector, T D, Stegle, O, Toniolo, D, Uitterlinden, A G, Barroso, I, Greenwood, C M T, Perry, J R B, Walker, B R, Butterworth, A S, Xue, Y, Durbin, R, Small, K S, Soranzo, N, Timpson, N J & Zeggini, E 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865-884 . https://doi.org/10.1016/j.ajhg.2017.04.014
Tachmazidou, I, Süveges, D, Min, J L, Ritchie, G R S, Steinberg, J, Walter, K, Iotchkova, V, Schwartzentruber, J, Huang, J, Memari, Y, McCarthy, S, Crawford, A A, Bombieri, C, Cocca, M, Farmaki, A-E, Gaunt, T R, Jousilahti, P, Kooijman, M N, Lehne, B, Malerba, G, Männistö, S, Matchan, A, Medina-Gomez, C, Metrustry, S J, Nag, A, Ntalla, I, Paternoster, L, Rayner, N W, Sala, C, Scott, W R, Shihab, H A, Southam, L, St Pourcain, B, Traglia, M, Trajanoska, K, Zaza, G, Zhang, W, Artigas, M S, Bansal, N, Benn, M, Chen, Z, Danecek, P, Lin, W-Y, Locke, A, Luan, J, Manning, A K, Mulas, A, Sidore, C, Tybjaerg-Hansen, A, Varbo, A, Zoledziewska, M, Finan, C, Hatzikotoulas, K, Hendricks, A E, Kemp, J P, Moayyeri, A, Panoutsopoulou, K, Szpak, M, Wilson, S G, Boehnke, M, Cucca, F, Di Angelantonio, E, Langenberg, C, Lindgren, C, McCarthy, M I, Morris, A P, Nordestgaard, B G, Scott, R A, Tobin, M D, Wareham, N J, Burton, P, Chambers, J C, Smith, G D, Dedoussis, G, Felix, J F, Franco, O H, Gambaro, G, Gasparini, P, Hammond, C J, Hofman, A, Jaddoe, V W V, Kleber, M, Kooner, J S, Perola, M, Relton, C, Ring, S M, Rivadeneira, F, Salomaa, V, Spector, T D, Stegle, O, Toniolo, D, Uitterlinden, A G, Barroso, I, Greenwood, C M T, Perry, J R B, Walker, B R, Butterworth, A S, Xue, Y, Durbin, R, Small, K S, Soranzo, N, Timpson, N J & Zeggini, E 2017, ' Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits ', American Journal of Human Genetics, vol. 100, no. 6, pp. 865–884 . https://doi.org/10.1016/j.ajhg.2017.04.014
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole genome sequencing (WGS) and deep im
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::204f2ad0000de30434091d05a9fc3854
http://hdl.handle.net/11562/965145
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8
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Autor: Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean-Francois, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.
Publikováno v: Nature Communications
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d54c375a224121fe098880fbe1e139b2
http://europepmc.org/articles/PMC5309803
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9
The UK10K project identifies rare variants in health and disease
Autor: Walter, Klaudia, Min, Josine L., Huang, Jie, Crooks, Lucy, Memari, Yasin, McCarthy, Shane, Perry, John R. B., Xu, ChangJiang, Futema, Marta, Lawson, Daniel, Iotchkova, Valentina, Schiffels, Stephan, Hendricks, Audrey E., Danecek, Petr, Li, Rui, Floyd, James, Wain, Louise V., Barroso, Inês, Humphries, Steve E., Hurles, Matthew E., Zeggini, Eleftheria, Barrett, Jeffrey C., Plagnol, Vincent, Brent Richards, J., Greenwood, Celia M. T., Timpson, Nicholas J., Durbin, Richard, Soranzo, Nicole, Bala, Senduran, Clapham, Peter, Coates, Guy, Cox, Tony, Daly, Allan, Du, Yuanping, Edkins, Sarah, Ellis, Peter, Flicek, Paul, Guo, Xiaosen, Guo, Xueqin, Huang, Liren, Jackson, David K., Joyce, Chris, Keane, Thomas, Kolb-Kokocinski, Anja, Langford, Cordelia, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Maslen, John, Muddyman, Dawn, Quail, Michael A., Stalker, Jim, Sun, Jianping, Tian, Jing, Wang, Guangbiao, Wang, Jun, Wang, Yu, Wong, Kim, Zhang, Pingbo, Birney, Ewan, Boustred, Chris, Chen, Lu, Clement, Gail, Cocca, Massimiliano, Davey Smith, George, Day, Ian N. M., Day-Williams, Aaron, Down, Thomas, Dunham, Ian, Evans, David M., Gaunt, Tom R., Geihs, Matthias, Hart, Deborah, Howie, Bryan, Hubbard, Tim, Hysi, Pirro, Jamshidi, Yalda, Karczewski, Konrad J., Kemp, John P., Lachance, Genevieve, Lek, Monkol, Lopes, Margarida, MacArthur, Daniel G., Marchini, Jonathan, Mangino, Massimo, Mathieson, Iain, Metrustry, Sarah, Moayyeri, Alireza, Northstone, Kate, Panoutsopoulou, Kalliope, Paternoster, Lavinia, Quaye, Lydia, Ring, Susan, Ritchie, Graham R. S., Shihab, Hashem A., Shin, So-Youn, Small, Kerrin S., Soler Artigas, María, Southam, Lorraine, Spector, Timothy D., St Pourcain, Beate, Surdulescu, Gabriela, Tachmazidou, Ioanna, Tobin, Martin D., Valdes, Ana M., Visscher, Peter M., Ward, Kirsten, Wilson, Scott G., Yang, Jian, Zhang, Feng, Zheng, Hou-Feng, Anney, Richard, Ayub, Muhammad, Blackwood, Douglas, Bolton, Patrick F., Breen, Gerome, Collier, David A., Craddock, Nick, Curran, Sarah, Curtis, David, Gallagher, Louise, Geschwind, Daniel, Gurling, Hugh, Holmans, Peter, Lee, Irene, Lönnqvist, Jouko, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew, Morris, James, O'Donovan, Michael C., Owen, Michael J., Palotie, Aarno, Parr, Jeremy R., Paunio, Tiina, Pietilainen, Olli, Rehnström, Karola, Sharp, Sally I., Skuse, David, St Clair, David, Suvisaari, Jaana, Walters, James T. R., Williams, Hywel J., Bochukova, Elena, Bounds, Rebecca, Dominiczak, Anna, Farooqi, I. Sadaf, Keogh, Julia, Marenne, Gaëlle, Morris, Andrew, O'Rahilly, Stephen, Porteous, David J., Smith, Blair H., Wheeler, Eleanor, Al Turki, Saeed, Anderson, Carl A., Antony, Dinu, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Fitzpatrick, David R., Reghan Foley, A., Franklin, Christopher S., Grozeva, Detelina, Mitchison, Hannah M., Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Lucy Raymond, F., Roberts, Nicola, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Spasic-Boskovic, Olivera, Stevens, Elizabeth, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Williamson, Kathleen A., Wilson, Crispian, Whyte, Tamieka, Ciampi, Antonio, Oualkacha, Karim, Bobrow, Martin, Griffin, Heather, Kaye, Jane, Kennedy, Karen, Kent, Alastair, Smee, Carol, Charlton, Ruth, Ekong, Rosemary, Khawaja, Farrah, Lopes, Luis R., Migone, Nicola, Payne, Stewart J., Pollitt, Rebecca C., Povey, Sue, Ridout, Cheryl K., Robinson, Rachel L., Scott, Richard H., Shaw, Adam, Syrris, Petros, Taylor, Rohan, Vandersteen, Anthony M., Amuzu, Antoinette, Pablo Casas, Juan, Chambers, John C., Dedoussis, George, Gambaro, Giovanni, Gasparini, Paolo, Isaacs, Aaron, Johnson, Jon, Kleber, Marcus E., Kooner, Jaspal S., Langenberg, Claudia, Luan, Jian'an, Malerba, Giovanni, März, Winfried, Matchan, Angela, Morris, Richard, Nordestgaard, Børge G., Benn, Marianne, Scott, Robert A., Toniolo, Daniela, Traglia, Michela, Tybjaerg-Hansen, Anne, van Duijn, Cornelia M., van Leeuwen, Elisabeth M., Varbo, Anette, Whincup, Peter, Zaza, Gianluigi, Zhang, Weihua
Publikováno v: 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
Nature
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Hendricks, A E, Danecek, P, Li, R, Floyd, J, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N J, Durbin, R, Soranzo, N, Bala, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Guo, X, Huang, L, Jackson, D K, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, M A, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Barroso, I, Birney, E, Boustred, C, Chen, L, Clement, G, Cocca, M, Danecek, P, Smith, G D, Day, I N M, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, D M, Gaunt, T R, Geihs, M, Greenwood, C M T, Hart, D, Hendricks, A E, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Karczewski, K J, Kemp, J P, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, D G, Marchini, J, Mangino, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, J L, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, J R B, Quaye, L, Richards, J B, Ring, S, Ritchie, G R S, Schiffels, S, Shihab, H A, Shin, S-Y, Small, K S, Artigas, M S, Soranzo, N, Southam, L, Spector, T D, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, N J, Tobin, M D, Valdes, A M, Visscher, P M, Wain, L V, Walter, K, Ward, K, Wilson, S G, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, J C, Blackwood, D, Bolton, P F, Breen, G, Collier, D A, Craddock, N, Crooks, L, Curran, S, Curtis, D, Durbin, R, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McCarthy, S, McGuffin, P, McIntosh, A M, McKechanie, A G, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, M C, Owen, M J, Palotie, A, Parr, J R, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, S I, Skuse, D, St Clair, D, Suvisaari, J, Walters, J T R, Williams, H J, Barroso, I, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Farooqi, I S, Hendricks, A E, Keogh, J, Marenne, G L, McCarthy, S, Morris, A, Muddyman, D, O'Rahilly, S, Porteous, D J, Smith, B H, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, C A, Antony, D, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, D R, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Grozeva, D, Humphries, S E, Hurles, M E, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, F L, Roberts, N, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R K, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, K A, Wilson, C, Whyte, T, Ciampi, A, Greenwood, C M T, Hendricks, A E, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, P F, Durbin, R, Fitzpatrick, D R, Griffin, H, Hurles, M E, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, F L, Semple, R K, Smee, C, Spector, T D, Timpson, N J, Charlton, R, Ekong, R, Futema, M, Humphries, S E, Khawaja, F, Lopes, L R, Migone, N, Payne, S J, Plagnol, V, Pollitt, R C, Povey, S, Ridout, C K, Robinson, R L, Scott, R H, Shaw, A, Syrris, P, Taylor, R, Vandersteen, A M, Barrett, J C, Barroso, I, Smith, G D, Durbin, R, Farooqi, I S, Fitzpatrick, D R, Hurles, M E, Kaye, J, Kennedy, K, Langford, C, McCarthy, S, Muddyman, D, Owen, M J, Palotie, A, Richards, J B, Soranzo, N, Spector, T D, Stalker, J, Timpson, N J, Zeggini, E, Amuzu, A, Casas, J P, Chambers, J C, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Gaunt, T R, Huang, J, Iotchkova, V, Isaacs, A, Johnson, J, Kleber, M E, Kooner, J S, Langenberg, C, Luan, J, Malerba, G, Maerz, W, Matchan, A, Min, J L, Morris, R, Nordestgaard, B, Ring, S, Scott, R A, Soranzo, N, Southam, L, Timpson, N J, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, van Duijn, C M, van Leeuwen, E M, Varbo, A, Whincup, P, Zaza, G, Zeggini, E, Zhang, W & Benn, M 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
Perry, J R B, Brent Richards, J, Clement, G, Hart, D, Hysi, P, Metrustry, S, Hubbard, T, Lachance, G & Small, K S & Breen, G 2015, ' The UK10K project identifies rare variants in health and disease ', NATURE, vol. 526, pp. 82-90 . https://doi.org/10.1038/nature14962
Nature, 526(7571). Nature Publishing Group
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D J, Lotchkova, V, Schiffels, S, Hendricks, A, Danecek, P, Li, R, Floyd, J A B, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N, Durbin, R, Soranzo, N, Davey Smith, G, Kemp, J, Northstone, K, Paternoster, L, Shihab, H, Shin, S-Y, St Pourcain, B & Gaunt, T & Ring, S 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
M. Kivimäki työryhmäjäsen. The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7x) or exomes (high read depth, 80x) of nearly 10,000 i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c98ee0e2168e0883e84613d6b6f995
https://www.pure.ed.ac.uk/ws/files/21706974/The_UK10K_project_identifies_rare_variants_in_health_and_disease.pdf
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