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Record W2150577437 · doi:10.1038/sj.bjc.6605338

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

2009· article· en· W2150577437 on OpenAlexafffund
Ian Tomlinson, Malcolm G. Dunlop, Harry Campbell, Brent W. Zanke, Steve Gallinger, Thomas J. Hudson, Thibaud Koessler, Paul D.P. Pharoah, I Niittymäkix, S Tuupanenx, Lauri A. Aaltonen, Kari Hemminki, Annika Lindblom, Asta Försti, Oliver M. Sieber, Lara Lipton, Tom van Wezel, Hans Morreau, Juul Wijnen, Peter Devilee, Koichi Matsuda, Yusuke Nakamura, Sergi Castellvı́-Bel, Clara Ruíz-Ponte, Antoni Castells, Ángel Carracedo, Judy Ho, Pak C. Sham, Robert M.W. Hofstra, Pavel Vodička, Hermann Brenner, Jochen Hampe, Clemens Schafmayer, Jürgen Tepel, Stefan Schreiber, Henry Völzke, Markus M. Lerch, Christian A. Schmidt, Stephan Buch, Vı́ctor Moreno, Cristina M. Villanueva, Paolo Peterlongo, Paolo Radice, M. M. Echeverry, A Vélez, Luis G. Carvajal‐Carmona, Rodney J. Scott, Steven Penegar, Peter Broderick, Albert Tenesa, Richard S. Houlston

Bibliographic record

VenueBritish Journal of Cancer · 2009
Typearticle
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalCancer Care OntarioUniversity of OttawaUniversity of TorontoOntario Institute for Cancer Research
FundersInstituto de Salud Carlos IIIUniversität GreifswaldXunta de GaliciaDeutsche KrebshilfeSiemensBundesministerium für Bildung und ForschungAssociazione Italiana per la Ricerca sul CancroFonds NutsOhraGrantová Agentura České RepublikyEuropean CommissionFondazione Italiana per la Ricerca sul CancroVetenskapsrådetOntario Institute for Cancer ResearchNational Health and Medical Research CouncilCancer Research UKUniversidad del TolimaSwedish Cancer FoundationNational Cancer InstituteKWF KankerbestrijdingMinistry of Cultural AffairsGenome Canada
KeywordsPenetranceColorectal cancerCancer geneticsMultifactorial InheritanceCancerGeneticsInheritance (genetic algorithm)Human geneticsBiologyGenetic variantsMedicineOncologyBioinformaticsSingle-nucleotide polymorphismGenotypeGenePhenotype

Abstract

fetched live from OpenAlex

It is now recognised that a part of the inherited risk of colorectal cancer (CRC) can be explained by the co-inheritance of low-penetrance genetic variants. The accumulated experience to date in identifying these variants has served to highlight difficulties in conducting statistically and methodologically rigorous studies and follow-up analyses. The COGENT (COlorectal cancer GENeTics) consortium includes 20 research groups in Europe, Australia, the Americas, China and Japan. The overarching goal of COGENT is to identify and characterise low-penetrance susceptibility variants for CRC through association-based analyses. In this study, we review the rationale for identifying low-penetrance variants for CRC and our proposed strategy for establishing COGENT.

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)0.028
metaresearch head score (Gemma)0.026
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.028
Threshold uncertainty score0.150

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0280.026
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0070.010
Science and technology studies0.0020.002
Scholarly communication0.0030.001
Open science0.0030.008
Research integrity0.0030.003
Insufficient payload (model declined to judge)0.0060.001

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 head0.016
GPT teacher head0.303
Teacher spread0.287 · 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

Citations48
Published2009
Admission routes2
Has abstractyes

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Same venueBritish Journal of CancerSame topicGenetic factors in colorectal cancerFrench-language works237,207