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Discovery of common and rare genetic risk variants for colorectal cancer
Jeroen R. Huyghe, Stephanie A. Bien, Tabitha A. Harrison, Hyun Min Kang, Sai Chen, Stephanie L. Schmit, David V. Conti, Conghui Qu, Jihyoun Jeon, Christopher K. Edlund, Peyton Greenside, Michael Wainberg, Fredrick R. Schumacher, Joshua D. Smith, David Levine, Sarah C. Nelson, Nasa Sinnott-Armstrong, Demetrius Albanes, M. Henar Alonso, Kristin E. Anderson, Coral Arnau‐Collell, Volker Arndt, Christina Bamia, Barbara L. Banbury, John A. Baron, Sonja I. Berndt, Stéphane Bezieau, D. Timothy Bishop, Juergen Boehm, Heiner Boeing, Hermann Brenner, Stefanie Brezina, Stephan Buch, Daniel D. Buchanan, Andrea N. Burnett‐Hartman, Katja Butterbach, Bette J. Caan, Peter T. Campbell, Christopher S. Carlson, Sergi Castellvı́-Bel, Andrew T. Chan, Jenny Chang-Claude, Stephen J. Chanock, María‐Dolores Chirlaque, Sang‐Hee Cho, Charles M. Connolly, Amanda J. Cross, Katarina Ćuk, Keith R. Curtis, Albert de la Chapelle, Kimberly F. Doheny, David Duggan, Douglas F. Easton, Sjoerd G. Elias, Faye Elliott, Dallas R. English, Edith J. M. Feskens, Jane C. Figueiredo, Rocky Fischer, Liesel M. FitzGerald, David Forman, Manish Gala, Steven Gallinger, W. James Gauderman, Graham G. Giles, Elizabeth M. Gillanders, Jian Gong, Phyllis J. Goodman, William M. Grady, John Grove, Andrea Gsur, Marc J. Gunter, Robert W. Haile, Jochen Hampe, Heather Hampel, Sophia Harlid, Richard B. Hayes, Philipp Hofer, Michael Hoffmeister, John L. Hopper, Wan‐Ling Hsu, Wen‐Yi Huang, Thomas J. Hudson, David J. Hunter, Gemma Ibáñez‐Sanz, Gregory Idos, Roxann Ingersoll, Rebecca D. Jackson, Eric J. Jacobs, Mark A. Jenkins, Amit D. Joshi, Corinne E. Joshu, Temitope O. Keku, Timothy J. Key, Hyeong Rok Kim, Emiko Kobayashi, Laurence N. Kolonel, Charles Kooperberg, Tilman Kühn, Sébastien Küry, Sun‐Seog Kweon, Susanna C. Larsson, Cecelia Laurie, Loı̈c Le Marchand, Suzanne M. Leal, Soo Chin Lee, Flavio Lejbkowicz, Mathieu Lemire, Christopher I. Li, Li Li, Wolfgang Lieb, Yi Lin, Annika Lindblom, Noralane M. Lindor, Hua Ling, Tin L. Louie, Satu Männistö, Sanford D. Markowitz, Vicente Martín, Giovanna Masala, Marilena Melas, Roger L. Milne, Lorena Moreno, Neil Murphy, Robin Myte, Alessio Naccarati, Polly A. Newcomb, Kenneth Offit, Shuji Ogino, N. Charlotte Onland-Moret, Barbara Pardini, Patrick S. Parfrey, Rachel Pearlman, Vittorio Perduca, Paul D.P. Pharoah, Mila Pinchev, Elizabeth A. Platz, Ross L. Prentice, Elizabeth Pugh, Leon Raskin, Gad Rennert, Hedy S. Rennert, Elio Ríboli, Miguel Rodríguez‐Barranco, Jane Romm, Lori C. Sakoda, Clemens Schafmayer, Robert Schoen, Daniela Seminara, Mitul Shah, Tameka Shelford, Min‐Ho Shin, Katerina Shulman, Sabina Sieri, Martha L. Slattery, Melissa C. Southey, Zsofia K. Stadler, Christa Stegmaier, Yu‐Ru Su, Catherine M. Tangen, Stephen N. Thibodeau, Duncan C. Thomas, Sushma Thomas, Amanda E. Toland, Antonia Trichopoulou, Cornelia M. Ulrich, David Van Den Berg, Franzel J. B. van Duijnhoven, Bethany Van Guelpen, Henk van Kranen, Joseph Vijai, Kala Visvanathan, Pavel Vodička, Ludmila Vodičková, Veronika Vymetalkova, Korbinian Weigl, Stephanie J. Weinstein, Emily White, Aung Ko Win, C. Roland Wolf, Alicja Wolk, Michael O. Woods, Anna H. Wu, Syed H. Zaidi, Brent W. Zanke, Qing Zhang, Wei Zheng, Peter C. Scacheri, John D. Potter, Michael C. Bassik, Anshul Kundaje, Graham Casey, Vı́ctor Moreno, Gonçalo R. Abecasis, Deborah A. Nickerson, Stephen B. Gruber, Li Hsu, Ulrike Peters
Bibliographic record
VenueNature Genetics · 2018
Typereview
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsMemorial University of NewfoundlandLunenfeld-Tanenbaum Research InstituteOntario Institute for Cancer ResearchUniversity of TorontoMount Sinai Hospital
FundersNational Institute of Environmental Health SciencesCenter for Gastrointestinal Biology and Disease, School of Medicine, University of North Carolina at Chapel HillNational Cancer InstituteNational Heart, Lung, and Blood InstituteMedical Research CouncilJohns Hopkins Bloomberg School of Public HealthUniversity of OxfordWorld Health OrganizationUniversity of North Carolina at Chapel HillOhio State UniversityNational Institutes of HealthChonnam National UniversityCancer Research UKInvitaeMyriad GeneticsNational Institute of Diabetes and Digestive and Kidney DiseasesChonnam National University Hwasun HospitalJohns Hopkins University
KeywordsBiologyColorectal cancerGeneticsComputational biologyCancerBioinformatics
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: Meta-analysis · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.008
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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 head0.025
GPT teacher head0.351
Teacher spread0.326 · 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 designMeta-analysis
Domainnot available
GenreReview
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
Citations605
Published2018
Admission routes1
Has abstractno