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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 10774naa a2202881 4500 | |
| 001 | oai:DiVA.org:uu-136643 | |
| 003 | SwePub | |
| 008 | 101214s2010 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1366432 URI |
| 024 | 7 | a https://doi.org/10.1038/nature089792 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Craddock, Nick4 aut |
| 245 | 1 0 | a Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls |
| 264 | 1 | b Springer Science and Business Media LLC,c 2010 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Hurles, Matthew E.4 aut |
| 700 | 1 | a Cardin, Niall4 aut |
| 700 | 1 | a Pearson, Richard D.4 aut |
| 700 | 1 | a Plagnol, Vincent4 aut |
| 700 | 1 | a Robson, Samuel4 aut |
| 700 | 1 | a Vukcevic, Damjan4 aut |
| 700 | 1 | a Barnes, Chris4 aut |
| 700 | 1 | a Conrad, Donald F.4 aut |
| 700 | 1 | a Giannoulatou, Eleni4 aut |
| 700 | 1 | a Holmes, Chris4 aut |
| 700 | 1 | a Marchini, Jonathan L.4 aut |
| 700 | 1 | a Stirrups, Kathy4 aut |
| 700 | 1 | a Tobin, Martin D.4 aut |
| 700 | 1 | a Wain, Louise V.4 aut |
| 700 | 1 | a Yau, Chris4 aut |
| 700 | 1 | a Aerts, Jan4 aut |
| 700 | 1 | a Ahmad, Tariq4 aut |
| 700 | 1 | a Andrews, T. Daniel4 aut |
| 700 | 1 | a Arbury, Hazel4 aut |
| 700 | 1 | a Attwood, Anthony4 aut |
| 700 | 1 | a Auton, Adam4 aut |
| 700 | 1 | a Ball, Stephen G.4 aut |
| 700 | 1 | a Balmforth, Anthony J.4 aut |
| 700 | 1 | a Barrett, Jeffrey C.4 aut |
| 700 | 1 | a Barroso, Ines4 aut |
| 700 | 1 | a Barton, Anne4 aut |
| 700 | 1 | a Bennett, Amanda J.4 aut |
| 700 | 1 | a Bhaskar, Sanjeev4 aut |
| 700 | 1 | a Blaszczyk, Katarzyna4 aut |
| 700 | 1 | a Bowes, John4 aut |
| 700 | 1 | a Brand, Oliver J.4 aut |
| 700 | 1 | a Braund, Peter S.4 aut |
| 700 | 1 | a Bredin, Francesca4 aut |
| 700 | 1 | a Breen, Gerome4 aut |
| 700 | 1 | a Brown, Morris J.4 aut |
| 700 | 1 | a Bruce, Ian N.4 aut |
| 700 | 1 | a Bull, Jaswinder4 aut |
| 700 | 1 | a Burren, Oliver S.4 aut |
| 700 | 1 | a Burton, John4 aut |
| 700 | 1 | a Byrnes, Jake4 aut |
| 700 | 1 | a Caesar, Sian4 aut |
| 700 | 1 | a Clee, Chris M.4 aut |
| 700 | 1 | a Coffey, Alison J.4 aut |
| 700 | 1 | a Connell, John M. C.4 aut |
| 700 | 1 | a Cooper, Jason D.4 aut |
| 700 | 1 | a Dominiczak, Anna F.4 aut |
| 700 | 1 | a Downes, Kate4 aut |
| 700 | 1 | a Drummond, Hazel E.4 aut |
| 700 | 1 | a Dudakia, Darshna4 aut |
| 700 | 1 | a Dunham, Andrew4 aut |
| 700 | 1 | a Ebbs, Bernadette4 aut |
| 700 | 1 | a Eccles, Diana4 aut |
| 700 | 1 | a Edkins, Sarah4 aut |
| 700 | 1 | a Edwards, Cathryn4 aut |
| 700 | 1 | a Elliot, Anna4 aut |
| 700 | 1 | a Emery, Paul4 aut |
| 700 | 1 | a Evans, David M.4 aut |
| 700 | 1 | a Evans, Gareth4 aut |
| 700 | 1 | a Eyre, Steve4 aut |
| 700 | 1 | a Farmer, Anne4 aut |
| 700 | 1 | a Ferrier, I. Nicol4 aut |
| 700 | 1 | a Feuk, Larsu Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)larsfeuk |
| 700 | 1 | a Fitzgerald, Tomas4 aut |
| 700 | 1 | a Flynn, Edward4 aut |
| 700 | 1 | a Forbes, Alistair4 aut |
| 700 | 1 | a Forty, Liz4 aut |
| 700 | 1 | a Franklyn, Jayne A.4 aut |
| 700 | 1 | a Freathy, Rachel M.4 aut |
| 700 | 1 | a Gibbs, Polly4 aut |
| 700 | 1 | a Gilbert, Paul4 aut |
| 700 | 1 | a Gokumen, Omer4 aut |
| 700 | 1 | a Gordon-Smith, Katherine4 aut |
| 700 | 1 | a Gray, Emma4 aut |
| 700 | 1 | a Green, Elaine4 aut |
| 700 | 1 | a Groves, Chris J.4 aut |
| 700 | 1 | a Grozeva, Detelina4 aut |
| 700 | 1 | a Gwilliam, Rhian4 aut |
| 700 | 1 | a Hall, Anita4 aut |
| 700 | 1 | a Hammond, Naomi4 aut |
| 700 | 1 | a Hardy, Matt4 aut |
| 700 | 1 | a Harrison, Pile4 aut |
| 700 | 1 | a Hassanali, Neelam4 aut |
| 700 | 1 | a Hebaishi, Husam4 aut |
| 700 | 1 | a Hines, Sarah4 aut |
| 700 | 1 | a Hinks, Anne4 aut |
| 700 | 1 | a Hitman, Graham A.4 aut |
| 700 | 1 | a Hocking, Lynne4 aut |
| 700 | 1 | a Howard, Eleanor4 aut |
| 700 | 1 | a Howard, Philip4 aut |
| 700 | 1 | a Howson, Joanna M. M.4 aut |
| 700 | 1 | a Hughes, Debbie4 aut |
| 700 | 1 | a Hunt, Sarah4 aut |
| 700 | 1 | a Isaacs, John D.4 aut |
| 700 | 1 | a Jain, Mahim4 aut |
| 700 | 1 | a Jewell, Derek P.4 aut |
| 700 | 1 | a Johnson, Toby4 aut |
| 700 | 1 | a Jolley, Jennifer D.4 aut |
| 700 | 1 | a Jones, Ian R.4 aut |
| 700 | 1 | a Jones, Lisa A.4 aut |
| 700 | 1 | a Kirov, George4 aut |
| 700 | 1 | a Langford, Cordelia F.4 aut |
| 700 | 1 | a Lango-Allen, Hana4 aut |
| 700 | 1 | a Lathrop, G. Mark4 aut |
| 700 | 1 | a Lee, James4 aut |
| 700 | 1 | a Lee, Kate L.4 aut |
| 700 | 1 | a Lees, Charlie4 aut |
| 700 | 1 | a Lewis, Kevin4 aut |
| 700 | 1 | a Lindgren, Cecilia M.4 aut |
| 700 | 1 | a Maisuria-Armer, Meeta4 aut |
| 700 | 1 | a Maller, Julian4 aut |
| 700 | 1 | a Mansfield, John4 aut |
| 700 | 1 | a Martin, Paul4 aut |
| 700 | 1 | a Massey, Dunecan C. O.4 aut |
| 700 | 1 | a McArdle, Wendy L.4 aut |
| 700 | 1 | a McGuffin, Peter4 aut |
| 700 | 1 | a McLay, Kirsten E.4 aut |
| 700 | 1 | a Mentzer, Alex4 aut |
| 700 | 1 | a Mimmack, Michael L.4 aut |
| 700 | 1 | a Morgan, Ann E.4 aut |
| 700 | 1 | a Morris, Andrew P.4 aut |
| 700 | 1 | a Mowat, Craig4 aut |
| 700 | 1 | a Myers, Simon4 aut |
| 700 | 1 | a Newman, William4 aut |
| 700 | 1 | a Nimmo, Elaine R.4 aut |
| 700 | 1 | a O'Donovan, Michael C.4 aut |
| 700 | 1 | a Onipinla, Abiodun4 aut |
| 700 | 1 | a Onyiah, Ifejinelo4 aut |
| 700 | 1 | a Ovington, Nigel R.4 aut |
| 700 | 1 | a Owen, Michael J.4 aut |
| 700 | 1 | a Palin, Kimmo4 aut |
| 700 | 1 | a Parnell, Kirstie4 aut |
| 700 | 1 | a Pernet, David4 aut |
| 700 | 1 | a Perry, John R. B.4 aut |
| 700 | 1 | a Phillips, Anne4 aut |
| 700 | 1 | a Pinto, Dalila4 aut |
| 700 | 1 | a Prescott, Natalie J.4 aut |
| 700 | 1 | a Prokopenko, Inga4 aut |
| 700 | 1 | a Quail, Michael A.4 aut |
| 700 | 1 | a Rafelt, Suzanne4 aut |
| 700 | 1 | a Rayner, Nigel W.4 aut |
| 700 | 1 | a Redon, Richard4 aut |
| 700 | 1 | a Reid, David M.4 aut |
| 700 | 1 | a Renwick, Anthony4 aut |
| 700 | 1 | a Ring, Susan M.4 aut |
| 700 | 1 | a Robertson, Neil4 aut |
| 700 | 1 | a Russell, Ellie4 aut |
| 700 | 1 | a St Clair, David4 aut |
| 700 | 1 | a Sambrook, Jennifer G.4 aut |
| 700 | 1 | a Sanderson, Jeremy D.4 aut |
| 700 | 1 | a Schuilenburg, Helen4 aut |
| 700 | 1 | a Scott, Carol E.4 aut |
| 700 | 1 | a Scott, Richard4 aut |
| 700 | 1 | a Seal, Sheila4 aut |
| 700 | 1 | a Shaw-Hawkins, Sue4 aut |
| 700 | 1 | a Shields, Beverley M.4 aut |
| 700 | 1 | a Simmonds, Matthew J.4 aut |
| 700 | 1 | a Smyth, Debbie J.4 aut |
| 700 | 1 | a Somaskantharajah, Elilan4 aut |
| 700 | 1 | a Spanova, Katarina4 aut |
| 700 | 1 | a Steer, Sophia4 aut |
| 700 | 1 | a Stephens, Jonathan4 aut |
| 700 | 1 | a Stevens, Helen E.4 aut |
| 700 | 1 | a Stone, Millicent A.4 aut |
| 700 | 1 | a Su, Zhan4 aut |
| 700 | 1 | a Symmons, Deborah P. M.4 aut |
| 700 | 1 | a Thompson, John R.4 aut |
| 700 | 1 | a Thomson, Wendy4 aut |
| 700 | 1 | a Travers, Mary E.4 aut |
| 700 | 1 | a Turnbull, Clare4 aut |
| 700 | 1 | a Valsesia, Armand4 aut |
| 700 | 1 | a Walker, Mark4 aut |
| 700 | 1 | a Walker, Neil M.4 aut |
| 700 | 1 | a Wallace, Chris4 aut |
| 700 | 1 | a Warren-Perry, Margaret4 aut |
| 700 | 1 | a Watkins, Nicholas A.4 aut |
| 700 | 1 | a Webster, John4 aut |
| 700 | 1 | a Weedon, Michael N.4 aut |
| 700 | 1 | a Wilson, Anthony G.4 aut |
| 700 | 1 | a Woodburn, Matthew4 aut |
| 700 | 1 | a Wordsworth, B. Paul4 aut |
| 700 | 1 | a Young, Allan H.4 aut |
| 700 | 1 | a Zeggini, Eleftheria4 aut |
| 700 | 1 | a Carter, Nigel P.4 aut |
| 700 | 1 | a Frayling, Timothy M.4 aut |
| 700 | 1 | a Lee, Charles4 aut |
| 700 | 1 | a McVean, Gil4 aut |
| 700 | 1 | a Munroe, Patricia B.4 aut |
| 700 | 1 | a Palotie, Aarno4 aut |
| 700 | 1 | a Sawcer, Stephen J.4 aut |
| 700 | 1 | a Scherer, Stephen W.4 aut |
| 700 | 1 | a Strachan, David P.4 aut |
| 700 | 1 | a Tyler-Smith, Chris4 aut |
| 700 | 1 | a Brown, Matthew A.4 aut |
| 700 | 1 | a Burton, Paul R.4 aut |
| 700 | 1 | a Caulfield, Mark J.4 aut |
| 700 | 1 | a Compston, Alastair4 aut |
| 700 | 1 | a Farrall, Martin4 aut |
| 700 | 1 | a Gough, Stephen C. L.4 aut |
| 700 | 1 | a Hall, Alistair S.4 aut |
| 700 | 1 | a Hattersley, Andrew T.4 aut |
| 700 | 1 | a Hill, Adrian V. S.4 aut |
| 700 | 1 | a Mathew, Christopher G.4 aut |
| 700 | 1 | a Pembrey, Marcus4 aut |
| 700 | 1 | a Satsangi, Jack4 aut |
| 700 | 1 | a Stratton, Michael R.4 aut |
| 700 | 1 | a Worthington, Jane4 aut |
| 700 | 1 | a Deloukas, Panos4 aut |
| 700 | 1 | a Duncanson, Audrey4 aut |
| 700 | 1 | a Kwiatkowski, Dominic P.4 aut |
| 700 | 1 | a McCarthy, Mark I.4 aut |
| 700 | 1 | a Ouwehand, Willem H.4 aut |
| 700 | 1 | a Parkes, Miles4 aut |
| 700 | 1 | a Rahman, Nazneen4 aut |
| 700 | 1 | a Todd, John A.4 aut |
| 700 | 1 | a Samani, Nilesh J.4 aut |
| 700 | 1 | a Donnelly, Peter4 aut |
| 710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
| 773 | 0 | t Natured : Springer Science and Business Media LLCg 464:7289, s. 713-720q 464:7289<713-720x 0028-0836x 1476-4687 |
| 856 | 4 | u https://openresearch-repository.anu.edu.au/bitstream/1885/37719/2/01_Craddock_Genome-wide_association_study_2010.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-136643 |
| 856 | 4 8 | u https://doi.org/10.1038/nature08979 |
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