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Record W2336910514 · doi:10.1016/j.ajhg.2016.03.001

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

2016· article· en· W2336910514 on OpenAlexafffund
Jun Li, Susan L. Woods, Sue Healey, Jonathan Beesley, Jason S. Lee, Haran Sivakumaran, Nicci Wayte, Kátia Nones, Joshua J. Waterfall, John Pearson, Anne-Marie Patch, Janine Senz, Manuel A. R. Ferreira, Pardeep Kaurah, Robertson Mackenzie, Alireza Heravi-Moussavi, Samantha Hansford, Tamsin R.M. Lannagan, Amanda B. Spurdle, Peter T. Simpson, Leonard Da Silva, Sunil R. Lakhani, Andrew D. Clouston, Mark Bettington, Florian Grimpen, Rita A. Busuttil, Natasha Di Costanzo, Alex Boussioutas, Marie Jeanjean, George Chong, Aurélie Fabre, Sylviane Olschwang, Geoffrey J. Faulkner, Evangelos Bellos, Lachlan Coin, Kevin P. Rioux, Oliver F. Bathe, Xiaogang Wen, Hilary C. Martin, Deborah W. Neklason, Sean Davis, Robert L. Walker, Itzhak Avital, Theo Heller, Christopher Koh, Marbin Pineda, Udo Rudloff, Martha Quezado, Pavel N. Pichurin, Peter J. Hulick, Scott M. Weissman, Anna Newlin, Wendy S. Rubinstein, Jone E. Sampson, Kelly Hamman, David Goldgar, Nicola Poplawski, Kerry Phillips, Lyn Schofield, Jacqueline Armstrong, Cathy Kiraly‐Borri, Graeme Suthers, David G. Huntsman, William D. Foulkes, Fátima Carneiro, Noralane M. Lindor, Stacey L. Edwards, Juliet D. French, Nicola Waddell, Paul S. Meltzer, Daniel L. Worthley, Kasmintan A. Schrader, Georgia Chenevix‐Trench

Bibliographic record

VenueThe American Journal of Human Genetics · 2016
Typearticle
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsBC Cancer AgencyOccupational Cancer Research CentreMcGill UniversityUniversity of CalgaryJewish General HospitalCanada's Michael Smith Genome Sciences CentreUniversity of British Columbia
FundersNational Cancer InstituteCanadian Institutes of Health ResearchDNA Genotek
KeywordsFamilial adenomatous polyposisBiologyPoint mutationAdenomatous polyposis coliAdenocarcinomaGeneticsCancer researchExonCancerAlleleSanger sequencingStomachMutationGeneColorectal cancer

Abstract

fetched live from OpenAlex
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 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)0.000
metaresearch head score (Gemma)0.001
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 score0.003
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0030.001
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0020.000
Insufficient payload (model declined to judge)0.0020.001

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 head0.014
GPT teacher head0.267
Teacher spread0.253 · 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

Citations265
Published2016
Admission routes2
Has abstractno

Explore more

Same venueThe American Journal of Human GeneticsSame topicGenetic factors in colorectal cancerFrench-language works237,207