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Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Kyle J. Gaulton, Teresa Ferreira, Yeji Lee, Anne Raimondo, Reedik Mägi, Michael E. Reschen, Anubha Mahajan, Adam E. Locke, Nigel W. Rayner, Neil Robertson, Robert A. Scott, Inga Prokopenko, Laura J. Scott, Todd Green, Thomas Sparsø, Dorothée Thuillier, Loïc Yengo, Harald Grallert, Simone Wahl, Mattias Frånberg, Rona J. Strawbridge, Hans A. Kestler, Himanshu Chheda, Lewin Eisele, Stefan Gustafsson, Valgerður Steinthórsdóttir, Guðmar Þorleifsson, Lu Qi, Lennart C. Karssen, Sara M. Willems, Man Li, Han Chen, Christian Fuchsberger, Phoenix Kwan, Clement Ma, Michael D. Linderman, Yingchang Lu, Soren K. Thomsen, Jana K. Rundle, Nicola L. Beer, Martijn van de Bunt, Anil Chalisey, Hyun Min Kang, Benjamin F. Voight, Gonçalo R. Abecasis, Peter Almgren, Damiano Baldassarre, Beverley Balkau, Rafn Benediktsson, Matthias Blüher, Heiner Boeing, Lori L. Bonnycastle, Erwin P. Böttinger, Noël P. Burtt, Jason Carey, G. Charpentier, Peter S. Chines, Marilyn C. Cornelis, David Couper, Andrew Crenshaw, Rob M. van Dam, Alex S. F. Doney, Mozhgan Dorkhan, Sarah Edkins, Johan G. Eriksson, Tõnu Esko, Elodie Eury, João Fadista, Jason Flannick, Pierre Fontanillas, Caroline S. Fox, Paul W. Franks, Karl Gertow, Christian Gieger, Bruna Gigante, Omri Gottesman, George Grant, Niels Grarup, Christopher J. Groves, Maija Hassinen, Christian Herder, Oddgeir L. Holmen, Ástráður B. Hreiðarsson, Steve E. Humphries, Sarah Hunt, Anne Jackson, Anna Jonsson, Marit E. Jørgensen, Torben Jørgensen, Wen‐Hong L. Kao, Nicola D. Kerrison, Leena Kinnunen, Norman Klopp, Augustine Kong, Péter Kovács, Peter Kraft, Jasmina Kravić, Cordelia Langford, Karin Leander, Liming Liang, Peter Lichtner, Cecilia M. Lindgren, Eero Lindholm, Allan Linneberg, Ching‐Ti Liu, Stéphane Lobbens, Jian’an Luan, Valeriya Lyssenko, Satu Männistö, Olga McLeod, Julia Meyer, Evelin Mihailov, Ghazala Mirza, Martina Müller‐Nurasyid, Carmen Navarro, Markus M. Nöthen, Nikolay Oskolkov, Katharine R. Owen, Domenico Palli, Sonali Pechlivanis, Leena Peltonen, John R. B. Perry, Carl G. P. Platou, Michael Roden, Douglas M. Ruderfer, Denis Rybin, Yvonne T. van der Schouw, Bengt Sennblad, Gunnar Sigurðsson, Alena Stančáková, Gerald Steinbach, Petter Storm, Konstantin Strauch, Heather M. Stringham, Qi Sun, Barbara Thorand, Emmi Tikkanen, Anke Tönjes, Joseph Trakalo, Elena Tremoli, Roman Wennauer, Steven Wiltshire, Andrew R. Wood, Eleftheria Zeggini, Ian Dunham, Ewan Birney, Lorenzo Pasquali, Jorge Ferrer, Ruth J. F. Loos, Josée Dupuis, José C. Florez, Eric Boerwinkle, James S. Pankow, Cornelia M. van Duijn, Eric J.G. Sijbrands, James B. Meigs, Frank B. Hu, Unnur Þorsteinsdóttir, Kāri Stefánsson, Timo A. Lakka, Rainer Rauramaa, Michael Stümvoll, Nancy L. Pedersen, Lars Lind, Sirkka Keinänen‐Kiukaanniemi, Eeva Korpi-Hyövälti, Timo Saaristo, Juha Saltevo, Johanna Kuusisto, Markku Laakso, Andres Metspalu, Raimund Erbel, Karl-Heinz Jöcke, Susanne Moebus, Samuli Ripatti, Veikko Salomaa, Erik Ingelsson, Bernhard O. Boehm, Richard N. Bergman, Francis S. Collins, Karen L. Mohlke, Heikki A. Koistinen, Jaakko Tuomilehto, Kristian Hveem, Inger Njølstad, Peter Donnelly, Timothy M. Frayling, Andrew T. Hattersley, Ulf dé Fairé, Anders Hamsten, Thomas Illig, Annette Peters, Stéphane Cauchi, Robert Sladek, Philippe Froguel, Torben Hansen, Oluf Pedersen, Andrew D. Morris, Sekar Kathiresan, Olle Melander, Peter M. Nilsson, Leif Groop, Inês Barroso, Claudia Langenberg, Nicholas J. Wareham, Christopher A. O’Callaghan, Anna L. Gloyn, David Altshuler, Michael Boehnke, Tanya M. Teslovich, Mark I. McCarthy, Andrew P. Morris
Bibliographic record
VenueNature Genetics · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University and Génome Québec Innovation CentreCentre Hospitalier de l’Université de Montréal
FundersNational Institute on AgingMedical Research CouncilU.S. Public Health ServiceNational Institutes of HealthHeinz Nixdorf StiftungH. Lundbeck A/SNational Center for Research ResourcesDiabetesliittoDeutsche ForschungsgemeinschaftSvenska LäkaresällskapetNovo Nordisk FondenHjerteforeningenMagnus Bergvalls StiftelseOpetus- ja KulttuuriministeriöSydäntutkimussäätiöAugustinus FondenNational Human Genome Research InstituteDanmarks Frie ForskningsfondVetenskapsrådetStockholms Läns LandstingRoyal Swedish Academy of SciencesDiabetes UKEtelä-Pohjanmaan SairaanhoitopiiriSigne ja Ane Gyllenbergin SäätiöKuopion Yliopistollinen SairaalaNational Institute of Diabetes and Digestive and Kidney DiseasesNorwegian Institute of Public HealthStiftelsen för Gamla TjänarinnorHelsingin ja Uudenmaan SairaanhoitopiiriKnut och Alice Wallenbergs StiftelsePaavo Nurmen SäätiöNovo NordiskHjärt-LungfondenFoundation for Cardiovascular ResearchPirkanmaan SairaanhoitopiiriFinska LäkaresällskapetNational Cancer InstituteLundbeckfondenNational Heart, Lung, and Blood InstituteBundesministerium für GesundheitSchool of Medicine, Boston UniversityEuropean CommissionBritish Heart FoundationBundesministerium für Bildung und ForschungVarsinais-Suomen SairaanhoitopiiriNational Institute for Health and Care ResearchSwedish e-Science Research CentreNorges ForskningsrådStiftelsen för Strategisk ForskningErasmus Medisch CentrumHelmholtz Zentrum MünchenKelaZonMwDiabetestutkimussäätiöWellcome TrustKarolinska InstitutetEuropean Regional Development FundTerveyden ja hyvinvoinnin laitos
KeywordsBiologyGeneticsAnnotationType 2 diabetesComputational biologyGenome-wide association studyEvolutionary biologySingle-nucleotide polymorphismDiabetes mellitusGenotypeGene
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 distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.340
Threshold uncertainty score0.875
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 head0.015
GPT teacher head0.254
Teacher spread0.239 · 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 teacher head, 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
Citations424
Published2015
Admission routes1
Has abstractno