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Record W2101342994 · doi:10.1002/gepi.20474

The challenge of detecting epistasis (G×G Interactions): Genetic Analysis Workshop 16

2009· article· en· W2101342994 on OpenAlex
Ping An, Odity Mukherjee, Pritam Chanda, Yao Li, Corinne D. Engelman, Chien‐Hsun Huang, Tian Zheng, Ilija Kovac, Marie‐Pierre Dubé, Xueying Liang, Jia Li, Mariza de Andrade, Robert Culverhouse, Doerthe Malzahn, Alisa K. Manning, Geraldine M Clarke, Jeesun Jung, Michael A. Province

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueGenetic Epidemiology · 2009
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMontreal Heart Institute
FundersNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Center for Research ResourcesNational Institute of General Medical SciencesNational Institute on Drug AbuseUniversity of WashingtonNational Institute on Alcohol Abuse and AlcoholismNational Institute on AgingNational Institutes of HealthFogarty International CenterNational Heart, Lung, and Blood Institute
KeywordsEpistasisPenetranceVariety (cybernetics)Genome-wide association studyComputational biologyVariance (accounting)Genetic associationBiologyEvolutionary biologyStatisticsComputer scienceMachine learningEconometricsGeneticsArtificial intelligenceMathematicsGenotypeGenePhenotypeSingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

Interest is increasing in epistasis as a possible source of the unexplained variance missed by genome-wide association studies. The Genetic Analysis Workshop 16 Group 9 participants evaluated a wide variety of classical and novel analytical methods for detecting epistasis, in both the statistical and machine learning paradigms, applied to both real and simulated data. Because the magnitude of epistasis is clearly relative to scale of penetrance, and therefore to some extent, to the choice of model framework, it is not surprising that strong interactions under one model might be minimized or even disappear entirely under a different modeling framework.

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.

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)0.002
metaresearch head score (Gemma)0.005
Version: codex-gemma-dda1882f352aValidation 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 score0.612
Threshold uncertainty score0.949

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.005
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.000
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 head0.032
GPT teacher head0.326
Teacher spread0.295 · 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