The UK10K project identifies rare variants in health and disease

Klaudia Walter; Josine L. Min; Jie Huang; Lucy Crooks; Yasin Memari; Shane McCarthy; John R. B. Perry; ChangJiang Xu; Marta Futema; Daniel Lawson; Valentina Iotchkova; Stephan Schiffels; Audrey E. Hendricks; Petr Danecek; Rui Li; James Floyd; Louise V. Wain; Ines Barroso; Steve E. Humphries; Matthew E. Hurles; Eleftheria Zeggini; Jeffrey C. Barrett; Vincent Plagnol; J. Brent Richards; Celia M. T. Greenwood; Nicholas J. Timpson; Richard Durbin; Nicole Soranzo; Senduran Bala; Peter Clapham; Guy Coates; Tony Cox; Allan Daly; Petr Danecek; Yuanping Du; Richard Durbin; Sarah Edkins; Peter Ellis; Paul Flicek; Xiaosen Guo; Xueqin Guo; Liren Huang; David K. Jackson; Chris Joyce; Thomas Keane; Anja Kolb-Kokocinski; Cordelia Langford; Yingrui Li; Jieqin Liang; Hong Lin; Ryan Liu; John Maslen; Shane McCarthy; Dawn Muddyman; Michael A. Quail; Jim Stalker; Jianping Sun; Jing Tian; Guangbiao Wang; Jun Wang; Yu Wang; Kim Wong; Pingbo Zhang; Ines Barroso; Ewan Birney; Chris Boustred; Lu Chen; Gail Clement; Massimiliano Cocca; Petr Danecek; George Davey Smith; Ian N. M. Day; Aaron Day-Williams; Thomas Down; Ian Dunham; Richard Durbin; David M. Evans; Tom R. Gaunt; Matthias Geihs; Celia M. T. Greenwood; Deborah Hart; Audrey E. Hendricks; Bryan Howie; Jie Huang; Tim Hubbard; Pirro Hysi; Valentina Iotchkova; Yalda Jamshidi; Konrad J. Karczewski; John P. Kemp; Genevieve Lachance; Daniel Lawson; Monkol Lek; Margarida Lopes; Daniel G. MacArthur; Jonathan Marchini; Massimo Mangino; Iain Mathieson; Shane McCarthy; Yasin Memari; Sarah Metrustry; Josine L. Min; Alireza Moayyeri; Dawn Muddyman; Kate Northstone; Kalliope Panoutsopoulou; Lavinia Paternoster; John R. B. Perry; Lydia Quaye; J. Brent Richards; Susan Ring; Graham R. S. Ritchie; Stephan Schiffels; Hashem A. Shihab; So-Youn Shin; Kerrin S. Small; Maria Soler Artigas; Nicole Soranzo; Lorraine Southam; Timothy D. Spector; Beate St Pourcain; Gabriela Surdulescu; Ioanna Tachmazidou; Nicholas J. Timpson; Martin D. Tobin; Ana M. Valdes; Peter M. Visscher; Louise V. Wain; Klaudia Walter; Kirsten Ward; Scott G. Wilson; Kim Wong; Jian Yang; Eleftheria Zeggini; Feng Zhang; Hou-Feng Zheng; Richard Anney; Muhammad Ayub; Jeffrey C. Barrett; Douglas Blackwood; Patrick F. Bolton; Gerome Breen; David A. Collier; Nick Craddock; Lucy Crooks; Sarah Curran; David Curtis; Richard Durbin; Louise Gallagher; Daniel Geschwind; Hugh Gurling; Peter Holmans; Irene Lee; Jouko Lonnqvist; Shane McCarthy; Peter McGuffin; Andrew M. McIntosh; Andrew G. McKechanie; Andrew McQuillin; James Morris; Dawn Muddyman; Michael C. O'Donovan; Michael J. Owen; Aarno Palotie; Jeremy R. Parr; Tiina Paunio; Olli Pietilainen; Karola Rehnstrom; Sally I. Sharp; David Skuse; David St Clair; Jaana Suvisaari; James T. R. Walters; Hywel J. Williams; Ines Barroso; Elena Bochukova; Rebecca Bounds; Anna Dominiczak; Richard Durbin; I. Sadaf Farooqi; Audrey E. Hendricks; Julia Keogh; Gae Lle Marenne; Shane McCarthy; Andrew Morris; Dawn Muddyman; Stephen O'Rahilly; David J. Porteous; Blair H. Smith; Ioanna Tachmazidou; Eleanor Wheeler; Eleftheria Zeggini; Saeed Al Turki; Carl A. Anderson; Dinu Antony; Ines Barroso; Phil Beales; Jamie Bentham; Shoumo Bhattacharya; Mattia Calissano; Keren Carss; Krishna Chatterjee; Sebahattin Cirak; Catherine Cosgrove; Richard Durbin; David R. Fitzpatrick; James Floyd; A. Reghan Foley; Christopher S. Franklin; Marta Futema; Detelina Grozeva; Steve E. Humphries; Matthew E. Hurles; Shane McCarthy; Hannah M. Mitchison; Dawn Muddyman; Francesco Muntoni; Stephen O'Rahilly; Alexandros Onoufriadis; Victoria Parker; Felicity Payne; Vincent Plagnol; F. Lucy Raymond; Nicola Roberts; David B. Savage; Peter Scambler; Miriam Schmidts; Nadia Schoenmakers; Robert K. Semple; Eva Serra; Olivera Spasic-Boskovic; Elizabeth Stevens; Margriet van Kogelenberg; Parthiban Vijayarangakannan; Klaudia Walter; Kathleen A. Williamson; Crispian Wilson; Tamieka Whyte; Antonio Ciampi; Celia M. T. Greenwood; Audrey E. Hendricks; Rui Li; Sarah Metrustry; Karim Oualkacha; Ioanna Tachmazidou; ChangJiang Xu; Eleftheria Zeggini; Martin Bobrow; Patrick F. Bolton; Richard Durbin; David R. Fitzpatrick; Heather Griffin; Matthew E. Hurles; Jane Kaye; Karen Kennedy; Alastair Kent; Dawn Muddyman; Francesco Muntoni; F. Lucy Raymond; Robert K. Semple; Carol Smee; Timothy D. Spector; Nicholas J. Timpson; Ruth Charlton; Rosemary Ekong; Marta Futema; Steve E. Humphries; Farrah Khawaja; Luis R. Lopes; Nicola Migone; Stewart J. Payne; Vincent Plagnol; Rebecca C. Pollitt; Sue Povey; Cheryl K. Ridout; Rachel L. Robinson; Richard H. Scott; Adam Shaw; Petros Syrris; Rohan Taylor; Anthony M. Vandersteen; Jeffrey C. Barrett; Ines Barroso; George Davey Smith; Richard Durbin; I. Sadaf Farooqi; David R. Fitzpatrick; Matthew E. Hurles; Jane Kaye; Karen Kennedy; Cordelia Langford; Shane McCarthy; Dawn Muddyman; Michael J. Owen; Aarno Palotie; J. Brent Richards; Nicole Soranzo; Timothy D. Spector; Jim Stalker; Nicholas J. Timpson; Eleftheria Zeggini; Antoinette Amuzu; Juan Pablo Casas; John C. Chambers; Massimiliano Cocca; George Dedoussis; Giovanni Gambaro; Paolo Gasparini; Tom R. Gaunt; Jie Huang; Valentina Iotchkova; Aaron Isaacs; Jon Johnson; Marcus E. Kleber; Jaspal S. Kooner; Claudia Langenberg; Jian'an Luan; Giovanni Malerba; Winfried Maerz; Angela Matchan; Josine L. Min; Richard Morris; Børge Nordestgaard; Susan Ring; Robert A. Scott; Nicole Soranzo; Lorraine Southam; Nicholas J. Timpson; Daniela Toniolo; Michela Traglia; Anne Tybjærg-Hansen; Cornelia M. van Duijn; Elisabeth M. van Leeuwen; Anette Varbo; Peter Whincup; Gianluigi Zaza; Eleftheria Zeggini; Weihua Zhang; Marianne Benn

doi:10.1038/nature14962

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John R. B. Perry, ChangJiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E. Hendricks, Petr Danecek, Rui Li, James Floyd, Louise V. Wain, Ines Barroso, Steve E. Humphries, Matthew E. HurlesEleftheria Zeggini, Jeffrey C. Barrett, Vincent Plagnol, J. Brent Richards, Celia M. T. Greenwood, Nicholas J. Timpson, Richard Durbin, Nicole Soranzo, Senduran Bala, Peter Clapham, Guy Coates, Tony Cox, Allan Daly, Petr Danecek, Yuanping Du, Richard Durbin, Sarah Edkins, Peter Ellis, Paul Flicek, Xiaosen Guo, Xueqin Guo, Liren Huang, David K. Jackson, Chris Joyce, Thomas Keane, Anja Kolb-Kokocinski, Cordelia Langford, Yingrui Li, Jieqin Liang, Hong Lin, Ryan Liu, John Maslen, Shane McCarthy, Dawn Muddyman, Michael A. Quail, Jim Stalker, Jianping Sun, Jing Tian, Guangbiao Wang, Jun Wang, Yu Wang, Kim Wong, Pingbo Zhang, Ines Barroso, Ewan Birney, Chris Boustred, Lu Chen, Gail Clement, Massimiliano Cocca, Petr Danecek, George Davey Smith, Ian N. M. Day, Aaron Day-Williams, Thomas Down, Ian Dunham, Richard Durbin, David M. Evans, Tom R. Gaunt, Matthias Geihs, Celia M. T. Greenwood, Deborah Hart, Audrey E. Hendricks, Bryan Howie, Jie Huang, Tim Hubbard, Pirro Hysi, Valentina Iotchkova, Yalda Jamshidi, Konrad J. Karczewski, John P. Kemp, Genevieve Lachance, Daniel Lawson, Monkol Lek, Margarida Lopes, Daniel G. MacArthur, Jonathan Marchini, Massimo Mangino, Iain Mathieson, Shane McCarthy, Yasin Memari, Sarah Metrustry, Josine L. Min, Alireza Moayyeri, Dawn Muddyman, Kate Northstone, Kalliope Panoutsopoulou, Lavinia Paternoster, John R. B. Perry, Lydia Quaye, J. Brent Richards, Susan Ring, Graham R. S. Ritchie, Stephan Schiffels, Hashem A. Shihab, So-Youn Shin, Kerrin S. Small, Maria Soler Artigas, Nicole Soranzo, Lorraine Southam, Timothy D. Spector, Beate St Pourcain, Gabriela Surdulescu, Ioanna Tachmazidou, Nicholas J. Timpson, Martin D. Tobin, Ana M. Valdes, Peter M. Visscher, Louise V. Wain, Klaudia Walter, Kirsten Ward, Scott G. Wilson, Kim Wong, Jian Yang, Eleftheria Zeggini, Feng Zhang, Hou-Feng Zheng, Richard Anney, Muhammad Ayub, Jeffrey C. Barrett, Douglas Blackwood, Patrick F. Bolton, Gerome Breen, David A. Collier, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Richard Durbin, Louise Gallagher, Daniel Geschwind, Hugh Gurling, Peter Holmans, Irene Lee, Jouko Lonnqvist, Shane McCarthy, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, James Morris, Dawn Muddyman, Michael C. O'Donovan, Michael J. Owen, Aarno Palotie, Jeremy R. Parr, Tiina Paunio, Olli Pietilainen, Karola Rehnstrom, Sally I. Sharp, David Skuse, David St Clair, Jaana Suvisaari, James T. R. Walters, Hywel J. Williams, Ines Barroso, Elena Bochukova, Rebecca Bounds, Anna Dominiczak, Richard Durbin, I. Sadaf Farooqi, Audrey E. Hendricks, Julia Keogh, Gae Lle Marenne, Shane McCarthy, Andrew Morris, Dawn Muddyman, Stephen O'Rahilly, David J. Porteous, Blair H. Smith, Ioanna Tachmazidou, Eleanor Wheeler, Eleftheria Zeggini, Saeed Al Turki, Carl A. Anderson, Dinu Antony, Ines Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Mattia Calissano, Keren Carss, Krishna Chatterjee, Sebahattin Cirak, Catherine Cosgrove, Richard Durbin, David R. Fitzpatrick, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Detelina Grozeva, Steve E. Humphries, Matthew E. Hurles, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O'Rahilly, Alexandros Onoufriadis, Victoria Parker, Felicity Payne, Vincent Plagnol, F. Lucy Raymond, Nicola Roberts, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Olivera Spasic-Boskovic, Elizabeth Stevens, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Kathleen A. Williamson, Crispian Wilson, Tamieka Whyte, Antonio Ciampi, Celia M. T. Greenwood, Audrey E. Hendricks, Rui Li, Sarah Metrustry, Karim Oualkacha, Ioanna Tachmazidou, ChangJiang Xu, Eleftheria Zeggini, Martin Bobrow, Patrick F. Bolton, Richard Durbin, David R. Fitzpatrick, Heather Griffin, Matthew E. Hurles, Jane Kaye, Karen Kennedy, Alastair Kent, Dawn Muddyman, Francesco Muntoni, F. Lucy Raymond, Robert K. Semple, Carol Smee, Timothy D. Spector, Nicholas J. Timpson, Ruth Charlton, Rosemary Ekong, Marta Futema, Steve E. Humphries, Farrah Khawaja, Luis R. Lopes, Nicola Migone, Stewart J. Payne, Vincent Plagnol, Rebecca C. Pollitt, Sue Povey, Cheryl K. Ridout, Rachel L. Robinson, Richard H. Scott, Adam Shaw, Petros Syrris, Rohan Taylor, Anthony M. Vandersteen, Jeffrey C. Barrett, Ines Barroso, George Davey Smith, Richard Durbin, I. Sadaf Farooqi, David R. Fitzpatrick, Matthew E. Hurles, Jane Kaye, Karen Kennedy, Cordelia Langford, Shane McCarthy, Dawn Muddyman, Michael J. Owen, Aarno Palotie, J. Brent Richards, Nicole Soranzo, Timothy D. Spector, Jim Stalker, Nicholas J. Timpson, Eleftheria Zeggini, Antoinette Amuzu, Juan Pablo Casas, John C. Chambers, Massimiliano Cocca, George Dedoussis, Giovanni Gambaro, Paolo Gasparini, Tom R. Gaunt, Jie Huang, Valentina Iotchkova, Aaron Isaacs, Jon Johnson, Marcus E. Kleber, Jaspal S. Kooner, Claudia Langenberg, Jian'an Luan, Giovanni Malerba, Winfried Maerz, Angela Matchan, Josine L. Min, Richard Morris, Børge Nordestgaard, Susan Ring, Robert A. Scott, Nicole Soranzo, Lorraine Southam, Nicholas J. Timpson, Daniela Toniolo, Michela Traglia, Anne Tybjærg-Hansen, Cornelia M. van Duijn, Elisabeth M. van Leeuwen, Anette Varbo, Peter Whincup, Gianluigi Zaza, Eleftheria Zeggini, Weihua Zhang, Marianne Benn

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Originalsprog	Engelsk
Tidsskrift	Nature
Vol/bind	526
Udgave nummer	7571
Sider (fra-til)	82-90
Antal sider	9
ISSN	0028-0836
DOI	https://doi.org/10.1038/nature14962
Status	Udgivet - 1 okt. 2015

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The UK10K project identifies rare variants in health and diseaseForlagets udgivne version, 6,48 MB

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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., ... Benn, M. (2015). The UK10K project identifies rare variants in health and disease. Nature, 526(7571), 82-90. https://doi.org/10.1038/nature14962

Walter, K, Min, JL, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, JRB, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Hendricks, AE, Danecek, P, Li, R, Floyd, J, Wain, LV, Barroso, I, Humphries, SE, Hurles, ME, Zeggini, E, Barrett, JC, Plagnol, V, Richards, JB, Greenwood, CMT, Timpson, NJ, 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, DK, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, MA, 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, GD, Day, INM, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, DM, Gaunt, TR, Geihs, M, Greenwood, CMT, Hart, D, Hendricks, AE, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Karczewski, KJ, Kemp, JP, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, DG, Marchini, J, Mangino, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, JL, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, JRB, Quaye, L, Richards, JB, Ring, S, Ritchie, GRS, Schiffels, S, Shihab, HA, Shin, S-Y, Small, KS, Artigas, MS, Soranzo, N, Southam, L, Spector, TD, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, NJ, Tobin, MD, Valdes, AM, Visscher, PM, Wain, LV, Walter, K, Ward, K, Wilson, SG, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, JC, Blackwood, D, Bolton, PF, Breen, G, Collier, DA, 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, AM, McKechanie, AG, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, MC, Owen, MJ, Palotie, A, Parr, JR, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, SI, Skuse, D, St Clair, D, Suvisaari, J, Walters, JTR, Williams, HJ, Barroso, I, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Farooqi, IS, Hendricks, AE, Keogh, J, Marenne, GL, McCarthy, S, Morris, A, Muddyman, D, O'Rahilly, S, Porteous, DJ, Smith, BH, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, CA, Antony, D, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, DR, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Grozeva, D, Humphries, SE, Hurles, ME, McCarthy, S, Mitchison, HM, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, FL, Roberts, N, Savage, DB, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, RK, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, KA, Wilson, C, Whyte, T, Ciampi, A, Greenwood, CMT, Hendricks, AE, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, PF, Durbin, R, Fitzpatrick, DR, Griffin, H, Hurles, ME, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, FL, Semple, RK, Smee, C, Spector, TD, Timpson, NJ, Charlton, R, Ekong, R, Futema, M, Humphries, SE, Khawaja, F, Lopes, LR, Migone, N, Payne, SJ, Plagnol, V, Pollitt, RC, Povey, S, Ridout, CK, Robinson, RL, Scott, RH, Shaw, A, Syrris, P, Taylor, R, Vandersteen, AM, Barrett, JC, Barroso, I, Smith, GD, Durbin, R, Farooqi, IS, Fitzpatrick, DR, Hurles, ME, Kaye, J, Kennedy, K, Langford, C, McCarthy, S, Muddyman, D, Owen, MJ, Palotie, A, Richards, JB, Soranzo, N, Spector, TD, Stalker, J, Timpson, NJ, Zeggini, E, Amuzu, A, Casas, JP, Chambers, JC, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Gaunt, TR, Huang, J, Iotchkova, V, Isaacs, A, Johnson, J, Kleber, ME, Kooner, JS, Langenberg, C, Luan, J, Malerba, G, Maerz, W, Matchan, A, Min, JL, Morris, R, Nordestgaard, B, Ring, S, Scott, RA, Soranzo, N, Southam, L, Timpson, NJ, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, van Duijn, CM, van Leeuwen, EM, Varbo, A, Whincup, P, Zaza, G, Zeggini, E, Zhang, W & Benn, M 2015, 'The UK10K project identifies rare variants in health and disease', Nature, bind 526, nr. 7571, s. 82-90. https://doi.org/10.1038/nature14962

@article{444ba8bd45f547919bb484b96c0d33d6,

title = "The UK10K project identifies rare variants in health and disease",

author = "Klaudia Walter and Min, {Josine L.} and Jie Huang and Lucy Crooks and Yasin Memari and Shane McCarthy and Perry, {John R. B.} and ChangJiang Xu and Marta Futema and Daniel Lawson and Valentina Iotchkova and Stephan Schiffels and Hendricks, {Audrey E.} and Petr Danecek and Rui Li and James Floyd and Wain, {Louise V.} and Ines Barroso and Humphries, {Steve E.} and Hurles, {Matthew E.} and Eleftheria Zeggini and Barrett, {Jeffrey C.} and Vincent Plagnol and Richards, {J. Brent} and Greenwood, {Celia M. T.} and Timpson, {Nicholas J.} and Richard Durbin and Nicole Soranzo and Senduran Bala and Peter Clapham and Guy Coates and Tony Cox and Allan Daly and Petr Danecek and Yuanping Du and Richard Durbin and Sarah Edkins and Peter Ellis and Paul Flicek and Xiaosen Guo and Xueqin Guo and Liren Huang and Jackson, {David K.} and Chris Joyce and Thomas Keane and Anja Kolb-Kokocinski and Cordelia Langford and Yingrui Li and Jieqin Liang and Hong Lin and Ryan Liu and John Maslen and Shane McCarthy and Dawn Muddyman and Quail, {Michael A.} and Jim Stalker and Jianping Sun and Jing Tian and Guangbiao Wang and Jun Wang and Yu Wang and Kim Wong and Pingbo Zhang and Ines Barroso and Ewan Birney and Chris Boustred and Lu Chen and Gail Clement and Massimiliano Cocca and Petr Danecek and Smith, {George Davey} and Day, {Ian N. M.} and Aaron Day-Williams and Thomas Down and Ian Dunham and Richard Durbin and Evans, {David M.} and Gaunt, {Tom R.} and Matthias Geihs and Greenwood, {Celia M. T.} and Deborah Hart and Hendricks, {Audrey E.} and Bryan Howie and Jie Huang and Tim Hubbard and Pirro Hysi and Valentina Iotchkova and Yalda Jamshidi and Karczewski, {Konrad J.} and Kemp, {John P.} and Genevieve Lachance and Daniel Lawson and Monkol Lek and Margarida Lopes and MacArthur, {Daniel G.} and Jonathan Marchini and Massimo Mangino and Iain Mathieson and Shane McCarthy and Yasin Memari and Sarah Metrustry and Min, {Josine L.} and Alireza Moayyeri and Dawn Muddyman and Kate Northstone and Kalliope Panoutsopoulou and Lavinia Paternoster and Perry, {John R. B.} and Lydia Quaye and Richards, {J. Brent} and Susan Ring and Ritchie, {Graham R. S.} and Stephan Schiffels and Shihab, {Hashem A.} and So-Youn Shin and Small, {Kerrin S.} and Artigas, {Maria Soler} and Nicole Soranzo and Lorraine Southam and Spector, {Timothy D.} and {St Pourcain}, Beate and Gabriela Surdulescu and Ioanna Tachmazidou and Timpson, {Nicholas J.} and Tobin, {Martin D.} and Valdes, {Ana M.} and Visscher, {Peter M.} and Wain, {Louise V.} and Klaudia Walter and Kirsten Ward and Wilson, {Scott G.} and Kim Wong and Jian Yang and Eleftheria Zeggini and Feng Zhang and Hou-Feng Zheng and Richard Anney and Muhammad Ayub and Barrett, {Jeffrey C.} and Douglas Blackwood and Bolton, {Patrick F.} and Gerome Breen and Collier, {David A.} and Nick Craddock and Lucy Crooks and Sarah Curran and David Curtis and Richard Durbin and Louise Gallagher and Daniel Geschwind and Hugh Gurling and Peter Holmans and Irene Lee and Jouko Lonnqvist and Shane McCarthy and Peter McGuffin and McIntosh, {Andrew M.} and McKechanie, {Andrew G.} and Andrew McQuillin and James Morris and Dawn Muddyman and O'Donovan, {Michael C.} and Owen, {Michael J.} and Aarno Palotie and Parr, {Jeremy R.} and Tiina Paunio and Olli Pietilainen and Karola Rehnstrom and Sharp, {Sally I.} and David Skuse and {St Clair}, David and Jaana Suvisaari and Walters, {James T. R.} and Williams, {Hywel J.} and Ines Barroso and Elena Bochukova and Rebecca Bounds and Anna Dominiczak and Richard Durbin and Farooqi, {I. Sadaf} and Hendricks, {Audrey E.} and Julia Keogh and Marenne, {Gae Lle} and Shane McCarthy and Andrew Morris and Dawn Muddyman and Stephen O'Rahilly and Porteous, {David J.} and Smith, {Blair H.} and Ioanna Tachmazidou and Eleanor Wheeler and Eleftheria Zeggini and {Al Turki}, Saeed and Anderson, {Carl A.} and Dinu Antony and Ines Barroso and Phil Beales and Jamie Bentham and Shoumo Bhattacharya and Mattia Calissano and Keren Carss and Krishna Chatterjee and Sebahattin Cirak and Catherine Cosgrove and Richard Durbin and Fitzpatrick, {David R.} and James Floyd and Foley, {A. Reghan} and Franklin, {Christopher S.} and Marta Futema and Detelina Grozeva and Humphries, {Steve E.} and Hurles, {Matthew E.} and Shane McCarthy and Mitchison, {Hannah M.} and Dawn Muddyman and Francesco Muntoni and Stephen O'Rahilly and Alexandros Onoufriadis and Victoria Parker and Felicity Payne and Vincent Plagnol and Raymond, {F. Lucy} and Nicola Roberts and Savage, {David B.} and Peter Scambler and Miriam Schmidts and Nadia Schoenmakers and Semple, {Robert K.} and Eva Serra and Olivera Spasic-Boskovic and Elizabeth Stevens and {van Kogelenberg}, Margriet and Parthiban Vijayarangakannan and Klaudia Walter and Williamson, {Kathleen A.} and Crispian Wilson and Tamieka Whyte and Antonio Ciampi and Greenwood, {Celia M. T.} and Hendricks, {Audrey E.} and Rui Li and Sarah Metrustry and Karim Oualkacha and Ioanna Tachmazidou and ChangJiang Xu and Eleftheria Zeggini and Martin Bobrow and Bolton, {Patrick F.} and Richard Durbin and Fitzpatrick, {David R.} and Heather Griffin and Hurles, {Matthew E.} and Jane Kaye and Karen Kennedy and Alastair Kent and Dawn Muddyman and Francesco Muntoni and Raymond, {F. Lucy} and Semple, {Robert K.} and Carol Smee and Spector, {Timothy D.} and Timpson, {Nicholas J.} and Ruth Charlton and Rosemary Ekong and Marta Futema and Humphries, {Steve E.} and Farrah Khawaja and Lopes, {Luis R.} and Nicola Migone and Payne, {Stewart J.} and Vincent Plagnol and Pollitt, {Rebecca C.} and Sue Povey and Ridout, {Cheryl K.} and Robinson, {Rachel L.} and Scott, {Richard H.} and Adam Shaw and Petros Syrris and Rohan Taylor and Vandersteen, {Anthony M.} and Barrett, {Jeffrey C.} and Ines Barroso and Smith, {George Davey} and Richard Durbin and Farooqi, {I. Sadaf} and Fitzpatrick, {David R.} and Hurles, {Matthew E.} and Jane Kaye and Karen Kennedy and Cordelia Langford and Shane McCarthy and Dawn Muddyman and Owen, {Michael J.} and Aarno Palotie and Richards, {J. Brent} and Nicole Soranzo and Spector, {Timothy D.} and Jim Stalker and Timpson, {Nicholas J.} and Eleftheria Zeggini and Antoinette Amuzu and Casas, {Juan Pablo} and Chambers, {John C.} and Massimiliano Cocca and George Dedoussis and Giovanni Gambaro and Paolo Gasparini and Gaunt, {Tom R.} and Jie Huang and Valentina Iotchkova and Aaron Isaacs and Jon Johnson and Kleber, {Marcus E.} and Kooner, {Jaspal S.} and Claudia Langenberg and Jian'an Luan and Giovanni Malerba and Winfried Maerz and Angela Matchan and Min, {Josine L.} and Richard Morris and B{\o}rge Nordestgaard and Susan Ring and Scott, {Robert A.} and Nicole Soranzo and Lorraine Southam and Timpson, {Nicholas J.} and Daniela Toniolo and Michela Traglia and Anne Tybj{\ae}rg-Hansen and {van Duijn}, {Cornelia M.} and {van Leeuwen}, {Elisabeth M.} and Anette Varbo and Peter Whincup and Gianluigi Zaza and Eleftheria Zeggini and Weihua Zhang and Marianne Benn",

year = "2015",

month = oct,

day = "1",

doi = "10.1038/nature14962",

language = "English",

volume = "526",

pages = "82--90",

journal = "Nature",

issn = "0028-0836",

publisher = "nature publishing group",

number = "7571",

}

TY - JOUR

T1 - The UK10K project identifies rare variants in health and disease

AU - Walter, Klaudia

AU - Min, Josine L.

AU - Huang, Jie

AU - Crooks, Lucy

AU - Memari, Yasin

AU - McCarthy, Shane

AU - Perry, John R. B.

AU - Xu, ChangJiang

AU - Futema, Marta

AU - Lawson, Daniel

AU - Iotchkova, Valentina

AU - Schiffels, Stephan

AU - Hendricks, Audrey E.

AU - Danecek, Petr

AU - Li, Rui

AU - Floyd, James

AU - Wain, Louise V.

AU - Barroso, Ines

AU - Humphries, Steve E.

AU - Hurles, Matthew E.

AU - Zeggini, Eleftheria

AU - Barrett, Jeffrey C.

AU - Plagnol, Vincent

AU - Richards, J. Brent

AU - Greenwood, Celia M. T.

AU - Timpson, Nicholas J.

AU - Durbin, Richard

AU - Soranzo, Nicole

AU - Bala, Senduran

AU - Clapham, Peter

AU - Coates, Guy

AU - Cox, Tony

AU - Daly, Allan

AU - Danecek, Petr

AU - Du, Yuanping

AU - Durbin, Richard

AU - Edkins, Sarah

AU - Ellis, Peter

AU - Flicek, Paul

AU - Guo, Xiaosen

AU - Guo, Xueqin

AU - Huang, Liren

AU - Jackson, David K.

AU - Joyce, Chris

AU - Keane, Thomas

AU - Kolb-Kokocinski, Anja

AU - Langford, Cordelia

AU - Li, Yingrui

AU - Liang, Jieqin

AU - Lin, Hong

AU - Liu, Ryan

AU - Maslen, John

AU - McCarthy, Shane

AU - Muddyman, Dawn

AU - Quail, Michael A.

AU - Stalker, Jim

AU - Sun, Jianping

AU - Tian, Jing

AU - Wang, Guangbiao

AU - Wang, Jun

AU - Wang, Yu

AU - Wong, Kim

AU - Zhang, Pingbo

AU - Barroso, Ines

AU - Birney, Ewan

AU - Boustred, Chris

AU - Chen, Lu

AU - Clement, Gail

AU - Cocca, Massimiliano

AU - Danecek, Petr

AU - Smith, George Davey

AU - Day, Ian N. M.

AU - Day-Williams, Aaron

AU - Down, Thomas

AU - Dunham, Ian

AU - Durbin, Richard

AU - Evans, David M.

AU - Gaunt, Tom R.

AU - Geihs, Matthias

AU - Greenwood, Celia M. T.

AU - Hart, Deborah

AU - Hendricks, Audrey E.

AU - Howie, Bryan

AU - Huang, Jie

AU - Hubbard, Tim

AU - Hysi, Pirro

AU - Iotchkova, Valentina

AU - Jamshidi, Yalda

AU - Karczewski, Konrad J.

AU - Kemp, John P.

AU - Lachance, Genevieve

AU - Lawson, Daniel

AU - Lek, Monkol

AU - Lopes, Margarida

AU - MacArthur, Daniel G.

AU - Marchini, Jonathan

AU - Mangino, Massimo

AU - Mathieson, Iain

AU - McCarthy, Shane

AU - Memari, Yasin

AU - Metrustry, Sarah

AU - Min, Josine L.

AU - Moayyeri, Alireza

AU - Muddyman, Dawn

AU - Northstone, Kate

AU - Panoutsopoulou, Kalliope

AU - Paternoster, Lavinia

AU - Perry, John R. B.

AU - Quaye, Lydia

AU - Richards, J. Brent

AU - Ring, Susan

AU - Ritchie, Graham R. S.

AU - Schiffels, Stephan

AU - Shihab, Hashem A.

AU - Shin, So-Youn

AU - Small, Kerrin S.

AU - Artigas, Maria Soler

AU - Soranzo, Nicole

AU - Southam, Lorraine

AU - Spector, Timothy D.

AU - St Pourcain, Beate

AU - Surdulescu, Gabriela

AU - Tachmazidou, Ioanna

AU - Timpson, Nicholas J.

AU - Tobin, Martin D.

AU - Valdes, Ana M.

AU - Visscher, Peter M.

AU - Wain, Louise V.

AU - Walter, Klaudia

AU - Ward, Kirsten

AU - Wilson, Scott G.

AU - Wong, Kim

AU - Yang, Jian

AU - Zeggini, Eleftheria

AU - Zhang, Feng

AU - Zheng, Hou-Feng

AU - Anney, Richard

AU - Ayub, Muhammad

AU - Barrett, Jeffrey C.

AU - Blackwood, Douglas

AU - Bolton, Patrick F.

AU - Breen, Gerome

AU - Collier, David A.

AU - Craddock, Nick

AU - Crooks, Lucy

AU - Curran, Sarah

AU - Curtis, David

AU - Durbin, Richard

AU - Gallagher, Louise

AU - Geschwind, Daniel

AU - Gurling, Hugh

AU - Holmans, Peter

AU - Lee, Irene

AU - Lonnqvist, Jouko

AU - McCarthy, Shane

AU - McGuffin, Peter

AU - McIntosh, Andrew M.

AU - McKechanie, Andrew G.

AU - McQuillin, Andrew

AU - Morris, James

AU - Muddyman, Dawn

AU - O'Donovan, Michael C.

AU - Owen, Michael J.

AU - Palotie, Aarno

AU - Parr, Jeremy R.

AU - Paunio, Tiina

AU - Pietilainen, Olli

AU - Rehnstrom, Karola

AU - Sharp, Sally I.

AU - Skuse, David

AU - St Clair, David

AU - Suvisaari, Jaana

AU - Walters, James T. R.

AU - Williams, Hywel J.

AU - Barroso, Ines

AU - Bochukova, Elena

AU - Bounds, Rebecca

AU - Dominiczak, Anna

AU - Durbin, Richard

AU - Farooqi, I. Sadaf

AU - Hendricks, Audrey E.

AU - Keogh, Julia

AU - Marenne, Gae Lle

AU - McCarthy, Shane

AU - Morris, Andrew

AU - Muddyman, Dawn

AU - O'Rahilly, Stephen

AU - Porteous, David J.

AU - Smith, Blair H.

AU - Tachmazidou, Ioanna

AU - Wheeler, Eleanor

AU - Zeggini, Eleftheria

AU - Al Turki, Saeed

AU - Anderson, Carl A.

AU - Antony, Dinu

AU - Barroso, Ines

AU - Beales, Phil

AU - Bentham, Jamie

AU - Bhattacharya, Shoumo

AU - Calissano, Mattia

AU - Carss, Keren

AU - Chatterjee, Krishna

AU - Cirak, Sebahattin

AU - Cosgrove, Catherine

AU - Durbin, Richard

AU - Fitzpatrick, David R.

AU - Floyd, James

AU - Foley, A. Reghan

AU - Franklin, Christopher S.

AU - Futema, Marta

AU - Grozeva, Detelina

AU - Humphries, Steve E.

AU - Hurles, Matthew E.

AU - McCarthy, Shane

AU - Mitchison, Hannah M.

AU - Muddyman, Dawn

AU - Muntoni, Francesco

AU - O'Rahilly, Stephen

AU - Onoufriadis, Alexandros

AU - Parker, Victoria

AU - Payne, Felicity

AU - Plagnol, Vincent

AU - Raymond, F. Lucy

AU - Roberts, Nicola

AU - Savage, David B.

AU - Scambler, Peter

AU - Schmidts, Miriam

AU - Schoenmakers, Nadia

AU - Semple, Robert K.

AU - Serra, Eva

AU - Spasic-Boskovic, Olivera

AU - Stevens, Elizabeth

AU - van Kogelenberg, Margriet

AU - Vijayarangakannan, Parthiban

AU - Walter, Klaudia

AU - Williamson, Kathleen A.

AU - Wilson, Crispian

AU - Whyte, Tamieka

AU - Ciampi, Antonio

AU - Greenwood, Celia M. T.

AU - Hendricks, Audrey E.

AU - Li, Rui

AU - Metrustry, Sarah

AU - Oualkacha, Karim

AU - Tachmazidou, Ioanna

AU - Xu, ChangJiang

AU - Zeggini, Eleftheria

AU - Bobrow, Martin

AU - Bolton, Patrick F.

AU - Durbin, Richard

AU - Fitzpatrick, David R.

AU - Griffin, Heather

AU - Hurles, Matthew E.

AU - Kaye, Jane

AU - Kennedy, Karen

AU - Kent, Alastair

AU - Muddyman, Dawn

AU - Muntoni, Francesco

AU - Raymond, F. Lucy

AU - Semple, Robert K.

AU - Smee, Carol

AU - Spector, Timothy D.

AU - Timpson, Nicholas J.

AU - Charlton, Ruth

AU - Ekong, Rosemary

AU - Futema, Marta

AU - Humphries, Steve E.

AU - Khawaja, Farrah

AU - Lopes, Luis R.

AU - Migone, Nicola

AU - Payne, Stewart J.

AU - Plagnol, Vincent

AU - Pollitt, Rebecca C.

AU - Povey, Sue

AU - Ridout, Cheryl K.

AU - Robinson, Rachel L.

AU - Scott, Richard H.

AU - Shaw, Adam

AU - Syrris, Petros

AU - Taylor, Rohan

AU - Vandersteen, Anthony M.

AU - Barrett, Jeffrey C.

AU - Barroso, Ines

AU - Smith, George Davey

AU - Durbin, Richard

AU - Farooqi, I. Sadaf

AU - Fitzpatrick, David R.

AU - Hurles, Matthew E.

AU - Kaye, Jane

AU - Kennedy, Karen

AU - Langford, Cordelia

AU - McCarthy, Shane

AU - Muddyman, Dawn

AU - Owen, Michael J.

AU - Palotie, Aarno

AU - Richards, J. Brent

AU - Soranzo, Nicole

AU - Spector, Timothy D.

AU - Stalker, Jim

AU - Timpson, Nicholas J.

AU - Zeggini, Eleftheria

AU - Amuzu, Antoinette

AU - Casas, Juan Pablo

AU - Chambers, John C.

AU - Cocca, Massimiliano

AU - Dedoussis, George

AU - Gambaro, Giovanni

AU - Gasparini, Paolo

AU - Gaunt, Tom R.

AU - Huang, Jie

AU - Iotchkova, Valentina

AU - Isaacs, Aaron

AU - Johnson, Jon

AU - Kleber, Marcus E.

AU - Kooner, Jaspal S.

AU - Langenberg, Claudia

AU - Luan, Jian'an

AU - Malerba, Giovanni

AU - Maerz, Winfried

AU - Matchan, Angela

AU - Min, Josine L.

AU - Morris, Richard

AU - Nordestgaard, Børge

AU - Ring, Susan

AU - Scott, Robert A.

AU - Soranzo, Nicole

AU - Southam, Lorraine

AU - Timpson, Nicholas J.

AU - Toniolo, Daniela

AU - Traglia, Michela

AU - Tybjærg-Hansen, Anne

AU - van Duijn, Cornelia M.

AU - van Leeuwen, Elisabeth M.

AU - Varbo, Anette

AU - Whincup, Peter

AU - Zaza, Gianluigi

AU - Zeggini, Eleftheria

AU - Zhang, Weihua

AU - Benn, Marianne

PY - 2015/10/1

Y1 - 2015/10/1

U2 - 10.1038/nature14962

DO - 10.1038/nature14962

M3 - Journal article

C2 - 26367797

SN - 0028-0836

VL - 526

SP - 82

EP - 90

JO - Nature

JF - Nature

IS - 7571

ER -

The UK10K project identifies rare variants in health and disease

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