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Record W3130237636

Genome-wide association study identifies multiple risk loci for renal cell carcinoma

2017· article· en· W3130237636 on OpenAlexaff
Ghislaine Scélo, Mark P. Purdue, Kevin M. Brown, Mattias Johansson, Zhaoming Wang, Jeanette E. Eckel‐Passow, Yuanqing Ye, Jonathan N. Hofmann, Jiyeon Choi, Matthieu Foll, Valérie Gaborieau, Mitchell J. Machiela, Leandro M. Colli, Peng Li, Joshua N. Sampson, Behnoush Abedi‐Ardekani, Céline Besse, Hélène Blanché, Anne Boland, Laurie Burdette, Amélie Chabrier, Geoffroy Durand, Florence Le Calvez‐Kelm, Egor Prokhortchouk, Nivonirina Robinot, K. G. Skryabin, Magdalena B. Wozniak, Meredith Yeager, Gordana Basta-Jovanović, Zoran Džamić, Lenka Foretová, Ivana Holcátová, Dana Mateș, Anush Mukeriya, Ștefan Rașcu, Давид Заридзе, Vladimír Bencko, Cezary Cybulski, Eleonóra Fabiánová, Viorel Jinga, Jolanta Lissowska, Jan Lubiński, Marie Navrátilová, Péter Rudnai, Neonila Szeszenia‐Dąbrowska, Simone Benhamou, Géraldine Cancel‐Tassin, Olivier Cussenot, Laura Baglietto, Heiner Boeing, Kay‐Tee Khaw, Elisabete Weiderpass, Börje Ljungberg, Raviprakash T. Sitaram, Fiona Bruinsma, Susan J. Jordan, Gianluca Severi, Ingrid Winship, Kristian Hveem, Lars J. Vatten, Tony Fletcher, Kvetoslava Koppová, Susanna C. Larsson, Alicja Wolk, Rosamonde E. Banks, Peter J. Selby, Douglas F. Easton, Paul D.P. Pharoah, Gabriella Andreotti, Laura E. Beane Freeman, Stella Koutros, Demetrius Albanes, Satu Männistö, Stephanie J. Weinstein, Peter E. Clark, Todd L. Edwards, Loren Lipworth, Susan M. Gapstur, Victoria L. Stevens, Hallie Carol, Matthew L. Freedman, Mark M. Pomerantz, Eunyoung Cho, Peter Kraft, Mark A. Preston, Kathryn M. Wilson, J. Michael Gaziano, Howard D. Sesso, Amanda Black, Neal D. Freedman, Wen‐Yi Huang, John Anema, Richard J. Kahnoski, Brian R. Lane, Sabrina L. Noyes, David Petillo, Bin Tean Teh, Ulrike Peters, Emily White, Garnet L. Anderson, Lisa Johnson, Juhua Luo, Julie E. Buring, I‐Min Lee, Wong‐Ho Chow, Lee E. Moore, Christopher G. Wood, Timothy Eisen, Marc Henrion, James Larkin, Poulami Barman, Bradley C. Leibovich, Toni K. Choueiri, G.M. Lathrop, Nathaniel Rothman, Jean‐François Deleuze, James McKay, Alexander S. Parker, Xifeng Wu, Richard S. Houlston, Paul Brennan, Stephen J. Chanock

Bibliographic record

VenueWhite Rose Research Online (University of Leeds, The University of Sheffield, University of York) · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill University
Fundersnot available
KeywordsGenome-wide association studyRenal cell carcinomaBiologyGeneticsGenetic associationExpression quantitative trait lociQuantitative trait locusClear cell renal cell carcinomaGeneOncologySingle-nucleotide polymorphismMedicineGenotype
DOInot available

Abstract

fetched live from OpenAlex

Abstract Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5, 198 cases and 7, 331 controls together with four existing scans, totalling 10, 784 cases and 20, 406 controls of European ancestry. Twenty-four loci were tested in an additional 3, 182 cases and 6, 301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10−10), 3p22.1 (rs67311347, P=2.5 × 10−8), 3q26.2 (rs10936602, P=8.8 × 10−9), 8p21.3 (rs2241261, P=5.8 × 10−9), 10q24.33-q25.1 (rs11813268, P=3.9 × 10−8), 11q22.3 (rs74911261, P=2.1 × 10−10) and 14q24.2 (rs4903064, P=2.2 × 10−24). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not 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)0.004
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 score0.007
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.003
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.034
GPT teacher head0.267
Teacher spread0.234 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine 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

Citations2
Published2017
Admission routes1
Has abstractyes

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