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Record W2154339166 · doi:10.1186/bcr3434

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

2013· letter· en· W2154339166 on OpenAlexaff
Melissa C. Southey, Daniel J. Park, Tú Nguyen‐Dumont, Ian Campbell, Ella R. Thompson, Alison H. Trainer, Georgia Chenevix‐Trench, Jacques Simard, Martine Dumont, Penny Soucy, Mads Thomassen, Lars Jønson, Inge Søkilde Pedersen, Thomas van Overeem Hansen, Heli Nevanlinna, Sofia Khan, Olga M. Sinilnikova, Sylvie Mazoyer, Fabienne Lesueur, Francesca Damiola, Rita K. Schmutzler, Alfons Meindl, Eric Hahnen, Michael R. Dufault, TL Chris Chan, Ava Kwong, Rósa B. Barkardóttir, Paolo Radice, Paolo Peterlongo, Peter Devilee, Florentine Hilbers, Javier Benı́tez, Anders Kvist, Therese Törngren, Douglas F. Easton, David J. Hunter, Sara Lindström, Peter Kraft, Wei Zheng, Yu-Tang Gao, Jirong Long, Susan J. Ramus, Bing Feng, Jeffrey N. Weitzel, Katherine L. Nathanson, Kenneth Offit, Joseph Vijai, Mark E. Robson, Kasmintan A. Schrader, San Ming Wang, Yeong C. Kim, Henry T. Lynch, Carrie Snyder, Sean V. Tavtigian, Susan L. Neuhausen, Fergus J. Couch, David E. Goldgar

Bibliographic record

VenueBreast Cancer Research · 2013
Typeletter
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversité Laval
FundersNational Cancer InstituteNational Breast Cancer FoundationSusan G. KomenNational Health and Medical Research CouncilBreast Cancer Research Foundation
KeywordsBreast cancerMissing heritability problemHeritabilityGenetic architectureGenetic associationGeneticsPositional cloningCandidate geneGenetic variationAlleleGenome-wide association studyBiologySurgical oncologyGenetic testingCancerBioinformaticsMedicineOncologyGeneGenotypeGenetic variantsSingle-nucleotide polymorphismQuantitative trait locusPhenotype

Abstract

fetched live from OpenAlex

Linkage analysis, positional cloning, candidate gene mutation scanning and genome-wide association study approaches have all contributed significantly to our understanding of the underlying genetic architecture of breast cancer. Taken together, these approaches have identified genetic variation that explains approximately 30% of the overall familial risk of breast cancer, implying that more, and likely rarer, genetic susceptibility alleles remain to be discovered.

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 distilled prediction

Teacher imitation

Not 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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.830
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.121
GPT teacher head0.403
Teacher spread0.281 · 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 teacher head, not a consensus.

Study designNot applicable
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

Citations43
Published2013
Admission routes1
Has abstractyes

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