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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Craddock, Nick (author)
Hurles, Matthew E. (author)
Cardin, Niall (author)
show more...
Pearson, Richard D. (author)
Plagnol, Vincent (author)
Robson, Samuel (author)
Vukcevic, Damjan (author)
Barnes, Chris (author)
Conrad, Donald F. (author)
Giannoulatou, Eleni (author)
Holmes, Chris (author)
Marchini, Jonathan L. (author)
Stirrups, Kathy (author)
Tobin, Martin D. (author)
Wain, Louise V. (author)
Yau, Chris (author)
Aerts, Jan (author)
Ahmad, Tariq (author)
Andrews, T. Daniel (author)
Arbury, Hazel (author)
Attwood, Anthony (author)
Auton, Adam (author)
Ball, Stephen G. (author)
Balmforth, Anthony J. (author)
Barrett, Jeffrey C. (author)
Barroso, Ines (author)
Barton, Anne (author)
Bennett, Amanda J. (author)
Bhaskar, Sanjeev (author)
Blaszczyk, Katarzyna (author)
Bowes, John (author)
Brand, Oliver J. (author)
Braund, Peter S. (author)
Bredin, Francesca (author)
Breen, Gerome (author)
Brown, Morris J. (author)
Bruce, Ian N. (author)
Bull, Jaswinder (author)
Burren, Oliver S. (author)
Burton, John (author)
Byrnes, Jake (author)
Caesar, Sian (author)
Clee, Chris M. (author)
Coffey, Alison J. (author)
Connell, John M. C. (author)
Cooper, Jason D. (author)
Dominiczak, Anna F. (author)
Downes, Kate (author)
Drummond, Hazel E. (author)
Dudakia, Darshna (author)
Dunham, Andrew (author)
Ebbs, Bernadette (author)
Eccles, Diana (author)
Edkins, Sarah (author)
Edwards, Cathryn (author)
Elliot, Anna (author)
Emery, Paul (author)
Evans, David M. (author)
Evans, Gareth (author)
Eyre, Steve (author)
Farmer, Anne (author)
Ferrier, I. Nicol (author)
Feuk, Lars (author)
Uppsala universitet,Institutionen för genetik och patologi
Fitzgerald, Tomas (author)
Flynn, Edward (author)
Forbes, Alistair (author)
Forty, Liz (author)
Franklyn, Jayne A. (author)
Freathy, Rachel M. (author)
Gibbs, Polly (author)
Gilbert, Paul (author)
Gokumen, Omer (author)
Gordon-Smith, Katherine (author)
Gray, Emma (author)
Green, Elaine (author)
Groves, Chris J. (author)
Grozeva, Detelina (author)
Gwilliam, Rhian (author)
Hall, Anita (author)
Hammond, Naomi (author)
Hardy, Matt (author)
Harrison, Pile (author)
Hassanali, Neelam (author)
Hebaishi, Husam (author)
Hines, Sarah (author)
Hinks, Anne (author)
Hitman, Graham A. (author)
Hocking, Lynne (author)
Howard, Eleanor (author)
Howard, Philip (author)
Howson, Joanna M. M. (author)
Hughes, Debbie (author)
Hunt, Sarah (author)
Isaacs, John D. (author)
Jain, Mahim (author)
Jewell, Derek P. (author)
Johnson, Toby (author)
Jolley, Jennifer D. (author)
Jones, Ian R. (author)
Jones, Lisa A. (author)
Kirov, George (author)
Langford, Cordelia F. (author)
Lango-Allen, Hana (author)
Lathrop, G. Mark (author)
Lee, James (author)
Lee, Kate L. (author)
Lees, Charlie (author)
Lewis, Kevin (author)
Lindgren, Cecilia M. (author)
Maisuria-Armer, Meeta (author)
Maller, Julian (author)
Mansfield, John (author)
Martin, Paul (author)
Massey, Dunecan C. O. (author)
McArdle, Wendy L. (author)
McGuffin, Peter (author)
McLay, Kirsten E. (author)
Mentzer, Alex (author)
Mimmack, Michael L. (author)
Morgan, Ann E. (author)
Morris, Andrew P. (author)
Mowat, Craig (author)
Myers, Simon (author)
Newman, William (author)
Nimmo, Elaine R. (author)
O'Donovan, Michael C. (author)
Onipinla, Abiodun (author)
Onyiah, Ifejinelo (author)
Ovington, Nigel R. (author)
Owen, Michael J. (author)
Palin, Kimmo (author)
Parnell, Kirstie (author)
Pernet, David (author)
Perry, John R. B. (author)
Phillips, Anne (author)
Pinto, Dalila (author)
Prescott, Natalie J. (author)
Prokopenko, Inga (author)
Quail, Michael A. (author)
Rafelt, Suzanne (author)
Rayner, Nigel W. (author)
Redon, Richard (author)
Reid, David M. (author)
Renwick, Anthony (author)
Ring, Susan M. (author)
Robertson, Neil (author)
Russell, Ellie (author)
St Clair, David (author)
Sambrook, Jennifer G. (author)
Sanderson, Jeremy D. (author)
Schuilenburg, Helen (author)
Scott, Carol E. (author)
Scott, Richard (author)
Seal, Sheila (author)
Shaw-Hawkins, Sue (author)
Shields, Beverley M. (author)
Simmonds, Matthew J. (author)
Smyth, Debbie J. (author)
Somaskantharajah, Elilan (author)
Spanova, Katarina (author)
Steer, Sophia (author)
Stephens, Jonathan (author)
Stevens, Helen E. (author)
Stone, Millicent A. (author)
Su, Zhan (author)
Symmons, Deborah P. M. (author)
Thompson, John R. (author)
Thomson, Wendy (author)
Travers, Mary E. (author)
Turnbull, Clare (author)
Valsesia, Armand (author)
Walker, Mark (author)
Walker, Neil M. (author)
Wallace, Chris (author)
Warren-Perry, Margaret (author)
Watkins, Nicholas A. (author)
Webster, John (author)
Weedon, Michael N. (author)
Wilson, Anthony G. (author)
Woodburn, Matthew (author)
Wordsworth, B. Paul (author)
Young, Allan H. (author)
Zeggini, Eleftheria (author)
Carter, Nigel P. (author)
Frayling, Timothy M. (author)
Lee, Charles (author)
McVean, Gil (author)
Munroe, Patricia B. (author)
Palotie, Aarno (author)
Sawcer, Stephen J. (author)
Scherer, Stephen W. (author)
Strachan, David P. (author)
Tyler-Smith, Chris (author)
Brown, Matthew A. (author)
Burton, Paul R. (author)
Caulfield, Mark J. (author)
Compston, Alastair (author)
Farrall, Martin (author)
Gough, Stephen C. L. (author)
Hall, Alistair S. (author)
Hattersley, Andrew T. (author)
Hill, Adrian V. S. (author)
Mathew, Christopher G. (author)
Pembrey, Marcus (author)
Satsangi, Jack (author)
Stratton, Michael R. (author)
Worthington, Jane (author)
Deloukas, Panos (author)
Duncanson, Audrey (author)
Kwiatkowski, Dominic P. (author)
McCarthy, Mark I. (author)
Ouwehand, Willem H. (author)
Parkes, Miles (author)
Rahman, Nazneen (author)
Todd, John A. (author)
Samani, Nilesh J. (author)
Donnelly, Peter (author)
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 (creator_code:org_t)
Springer Science and Business Media LLC, 2010
2010
English.
In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.

Keyword

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MEDICIN

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art (subject category)

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Craddock, Nick
Hurles, Matthew ...
Cardin, Niall
Pearson, Richard ...
Plagnol, Vincent
Robson, Samuel
show more...
Vukcevic, Damjan
Barnes, Chris
Conrad, Donald F ...
Giannoulatou, El ...
Holmes, Chris
Marchini, Jonath ...
Stirrups, Kathy
Tobin, Martin D.
Wain, Louise V.
Yau, Chris
Aerts, Jan
Ahmad, Tariq
Andrews, T. Dani ...
Arbury, Hazel
Attwood, Anthony
Auton, Adam
Ball, Stephen G.
Balmforth, Antho ...
Barrett, Jeffrey ...
Barroso, Ines
Barton, Anne
Bennett, Amanda ...
Bhaskar, Sanjeev
Blaszczyk, Katar ...
Bowes, John
Brand, Oliver J.
Braund, Peter S.
Bredin, Francesc ...
Breen, Gerome
Brown, Morris J.
Bruce, Ian N.
Bull, Jaswinder
Burren, Oliver S ...
Burton, John
Byrnes, Jake
Caesar, Sian
Clee, Chris M.
Coffey, Alison J ...
Connell, John M. ...
Cooper, Jason D.
Dominiczak, Anna ...
Downes, Kate
Drummond, Hazel ...
Dudakia, Darshna
Dunham, Andrew
Ebbs, Bernadette
Eccles, Diana
Edkins, Sarah
Edwards, Cathryn
Elliot, Anna
Emery, Paul
Evans, David M.
Evans, Gareth
Eyre, Steve
Farmer, Anne
Ferrier, I. Nico ...
Feuk, Lars
Fitzgerald, Toma ...
Flynn, Edward
Forbes, Alistair
Forty, Liz
Franklyn, Jayne ...
Freathy, Rachel ...
Gibbs, Polly
Gilbert, Paul
Gokumen, Omer
Gordon-Smith, Ka ...
Gray, Emma
Green, Elaine
Groves, Chris J.
Grozeva, Detelin ...
Gwilliam, Rhian
Hall, Anita
Hammond, Naomi
Hardy, Matt
Harrison, Pile
Hassanali, Neela ...
Hebaishi, Husam
Hines, Sarah
Hinks, Anne
Hitman, Graham A ...
Hocking, Lynne
Howard, Eleanor
Howard, Philip
Howson, Joanna M ...
Hughes, Debbie
Hunt, Sarah
Isaacs, John D.
Jain, Mahim
Jewell, Derek P.
Johnson, Toby
Jolley, Jennifer ...
Jones, Ian R.
Jones, Lisa A.
Kirov, George
Langford, Cordel ...
Lango-Allen, Han ...
Lathrop, G. Mark
Lee, James
Lee, Kate L.
Lees, Charlie
Lewis, Kevin
Lindgren, Cecili ...
Maisuria-Armer, ...
Maller, Julian
Mansfield, John
Martin, Paul
Massey, Dunecan ...
McArdle, Wendy L ...
McGuffin, Peter
McLay, Kirsten E ...
Mentzer, Alex
Mimmack, Michael ...
Morgan, Ann E.
Morris, Andrew P ...
Mowat, Craig
Myers, Simon
Newman, William
Nimmo, Elaine R.
O'Donovan, Micha ...
Onipinla, Abiodu ...
Onyiah, Ifejinel ...
Ovington, Nigel ...
Owen, Michael J.
Palin, Kimmo
Parnell, Kirstie
Pernet, David
Perry, John R. B ...
Phillips, Anne
Pinto, Dalila
Prescott, Natali ...
Prokopenko, Inga
Quail, Michael A ...
Rafelt, Suzanne
Rayner, Nigel W.
Redon, Richard
Reid, David M.
Renwick, Anthony
Ring, Susan M.
Robertson, Neil
Russell, Ellie
St Clair, David
Sambrook, Jennif ...
Sanderson, Jerem ...
Schuilenburg, He ...
Scott, Carol E.
Scott, Richard
Seal, Sheila
Shaw-Hawkins, Su ...
Shields, Beverle ...
Simmonds, Matthe ...
Smyth, Debbie J.
Somaskantharajah ...
Spanova, Katarin ...
Steer, Sophia
Stephens, Jonath ...
Stevens, Helen E ...
Stone, Millicent ...
Su, Zhan
Symmons, Deborah ...
Thompson, John R ...
Thomson, Wendy
Travers, Mary E.
Turnbull, Clare
Valsesia, Armand
Walker, Mark
Walker, Neil M.
Wallace, Chris
Warren-Perry, Ma ...
Watkins, Nichola ...
Webster, John
Weedon, Michael ...
Wilson, Anthony ...
Woodburn, Matthe ...
Wordsworth, B. P ...
Young, Allan H.
Zeggini, Elefthe ...
Carter, Nigel P.
Frayling, Timoth ...
Lee, Charles
McVean, Gil
Munroe, Patricia ...
Palotie, Aarno
Sawcer, Stephen ...
Scherer, Stephen ...
Strachan, David ...
Tyler-Smith, Chr ...
Brown, Matthew A ...
Burton, Paul R.
Caulfield, Mark ...
Compston, Alasta ...
Farrall, Martin
Gough, Stephen C ...
Hall, Alistair S ...
Hattersley, Andr ...
Hill, Adrian V. ...
Mathew, Christop ...
Pembrey, Marcus
Satsangi, Jack
Stratton, Michae ...
Worthington, Jan ...
Deloukas, Panos
Duncanson, Audre ...
Kwiatkowski, Dom ...
McCarthy, Mark I ...
Ouwehand, Willem ...
Parkes, Miles
Rahman, Nazneen
Todd, John A.
Samani, Nilesh J ...
Donnelly, Peter
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