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Record W3091941748 · doi:10.1038/s41467-020-18883-x

Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk

2020· article· en· W3091941748 on OpenAlexafffund
Weiva Sieh, Joseph H. Rothstein, Robert J. Klein, Stacey Alexeeff, Lori C. Sakoda, Eric Jorgenson, Russell B. McBride, Rebecca E. Graff, Valerie McGuire, Ninah Achacoso, Luana Acton, Rhea Liang, Jafi A. Lipson, Daniel L. Rubin, Martin J. Yaffe, Douglas F. Easton, Catherine Schaefer, Neil Risch, Alice S. Whittemore, Laurel A. Habel

Bibliographic record

VenueNature Communications · 2020
Typearticle
Languageen
FieldComputer Science
TopicAI in cancer detection
Canadian institutionsUniversity of Toronto
FundersNational Institute on AgingCancer Research UKHorizon 2020 Framework ProgrammeEuropean CommissionEllison Medical FoundationCanadian Institutes of Health ResearchGenome CanadaNational Cancer InstituteKaiser PermanenteWayne and Gladys Valley FoundationU.S. Department of Health and Human ServicesNational Institutes of HealthGovernment of Canada
KeywordsBreast cancerPhenotypeMAMMOGRAPHIC DENSITYIdentification (biology)Genome-wide association studyGeneticsCancerMammographyOncologyBiologyMedicineBioinformaticsSingle-nucleotide polymorphismGeneGenotype

Abstract

fetched live from OpenAlex

Abstract Mammographic density (MD) phenotypes are strongly associated with breast cancer risk and highly heritable. In this GWAS meta-analysis of 24,192 women, we identify 31 MD loci at P < 5 × 10 −8 , tripling the number known to 46. Seventeen identified MD loci also are associated with breast cancer risk in an independent meta-analysis ( P < 0.05). Mendelian randomization analyses show that genetic estimates of dense area (DA), nondense area (NDA), and percent density (PD) are all significantly associated with breast cancer risk ( P < 0.05). Pathway analyses reveal distinct biological processes involving DA, NDA and PD loci. These findings provide additional insights into the genetic basis of MD phenotypes and their associations with breast cancer risk.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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: none
Teacher disagreement score0.854
Threshold uncertainty score0.318

Codex and Gemma teacher scores by category

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

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 head0.015
GPT teacher head0.264
Teacher spread0.249 · 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.

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

Citations65
Published2020
Admission routes2
Has abstractyes

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