← Back to cohort
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Elaine Green, Ian Jones, Michael O‘Donovan, Michael J. Owen, Detelina Grozeva, George Kirov, Liz Forty, Nick Craddock, Ellie Russell, Panos Deloukas, Richard Redon, Chris Tyler‐Smith, Kathy Stirrups, Hazel Arbury, C. Barnes, Armand Valsesia, Willem H. Ouwehand, Matthew E. Hurles, Eleanor Howard, Andrew Dunham, Anthony Attwood, Michael L. Mimmack, Dominic Kwiatkowski, Nigel P. Carter, Jan Aerts, Michael A. Quail, Sanjeev S. Bhaskar, Kevin Lewis, Naomi Hammond, Elilan Somaskantharajah, Donald F. Conrad, T. Daniel Andrews, Ifejinelo Onyiah, Chris M. Clee, Husam Hebaishi, Jeffrey C. Barrett, Cordelia F. Langford, John H. Burton, Samuel C. Robson, Sarah Hunt, Rhian Gwilliam, Emma Gray, Kirsten McLay, Carol Scott, Aarno Palotie, Kimmo Palin, Alison J. Coffey, Inês Barroso, Sarah Edkins, Tomas Fitzgerald, Christopher Yau, Zhan Su, Gil McVean, Niall J. Cardin, Christopher Holmes, Eleni Giannoulatou, Jonathan Marchini, Adam Auton, Simon Myers, Julian Maller, Inga Prokopenko, Richard D. Pearson, Andrew P. Morris, Mahim Jain, Adrian V. S. Hill, Jake Byrnes, Damjan Vukcevic, Mark I. McCarthy, Vincent Plagnol, Nigel Ovington, Meeta Maisuria-Armer, Joanna M. M. Howson, Jason D. Cooper, Oliver S. Burren, Debbie J. Smyth, Kate Downes, Matthew Woodburn, Neil Walker, John A. Todd, Helen E. Stevens, Chris Wallace, Matt Hardy, Helen Schuilenburg, J. Thompson, Louise V. Wain, Paul R. Burton, Martin D. Tobin, Tariq Ahmad, Jennifer D. Jolley, Nicholas A. Watkins, Alistair S. Hall, Stephen G. Ball, Anthony J. Balmforth, Paul Martin, Deborah Symmons, Edward Flynn, John Bowes, Anne Hinks, Paul Gilbert, Anne Barton, Wendy Thomson, Ian N Bruce, Jane Worthington, Neelam Hassanali, Chris Groves, Mary E. Travers, Amanda J. Bennett, Natalie J. Prescott, Christopher G. Mathew, Katarzyna Błaszczyk, Stephan Brand, Matthew J. Simmonds, Peter S. Braund, Suzanne Rafelt, Nilesh J. Samani, Miles Parkes, Dunecan Massey, Francesca Bredin, James Lee, Gerome Breen, David St Clair, Anne Farmer, Peter McGuffin, Nazneen Rahman, Jaswinder Bull, Margaret Warren-Perry, Katarina Spanova, Debbie Hughes, Bernadette Ebbs, Darshna Dudakia, Anthony Renwick, Clare Turnbull, Sarah Hines, Richard Scott, David Pernet, Sheila Seal, Polly Gibbs, Anita Hall, Anna Elliot, Lisa Jones, Sian Caesar, John Connell, Anna F. Dominiczak, Charlie W. Lees, Elaine R. Nimmo, Hazel E. Drummond, Jack Satsangi, Diana Eccles, Cathryn Edwards, Paul Emery, David M. Evans, William G. Newman, D. Gareth Evans, I. Nicol Ferrier, Allan H. Young, Dalila Pinto, Stephen W. Scherer, Lars Feuk, Alastair Forbes, Andrew T. Hattersley, Hana Lango Allen, Rachel M. Freathy, Beverley M. Shields, Timothy M. Frayling, John R. B. Perry, Michael N. Weedon, Kirstie Parnell, Charles Lee, Omer Gokumen, Pille Harrison, G. A. Hitman, Lynne J. Hocking, David M. Reid, Toby Johnson, Philip Howard, Mark J. Caulfield, Abiodun Onipinla, Sue Shaw‐Hawkins, Patricia B. Munroe, Kate Lee, John D. Isaacs, Derek P. Jewell
Bibliographic record
VenueNature · 2010
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsSt. Michael's HospitalUniversity of British ColumbiaHospital for Sick ChildrenUniversity of British Columbia HospitalUniversity of Toronto
FundersVersus ArthritisNational Institute for Health and Care ResearchBritish Heart FoundationWellcome Trust
KeywordsGeneticsBiologyGenomeGenome-wide association studyComputational biologyEvolutionary biologyGeneSingle-nucleotide polymorphismGenotype
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.012
Threshold uncertainty score0.024
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.004
GPT teacher head0.224
Teacher spread0.220 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations812
Published2010
Admission routes1
Has abstractno