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Record W4220757114 · doi:10.1002/sim.9367

A mixture distribution approach for assessing genetic impact from twin study

2022· article· en· W4220757114 on OpenAlex
Zonghui Hu, Pengfei Li, Dean Follmann, Jing Qin

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

VenueStatistics in Medicine · 2022
Typearticle
Languageen
FieldComputer Science
TopicBayesian Methods and Mixture Models
Canadian institutionsUniversity of Waterloo
Fundersnot available
KeywordsStatisticsRestricted maximum likelihoodEstimatorBivariate analysisConsistency (knowledge bases)InferenceDizygotic twinsTwin studyEconometricsCorrelationMonozygotic twinGenetic correlationMathematicsMaximum likelihoodComputer scienceHeritabilityBiologyGeneticsGenetic variationArtificial intelligenceMedicine

Abstract

fetched live from OpenAlex

It is challenging to evaluate the genetic impacts on a biologic feature and separate them from environmental impacts. This is usually achieved through twin studies by assessing the collective genetic impact defined by the differential correlation in monozygotic twins vs dizygotic twins. Since the underlying order in a twin, determined by latent genetic factors, is unknown, the observed twin data are unordered. Conventional methods for correlation are not appropriate. To handle the missing order, we model twin data by a mixture bivariate distribution and estimate under two likelihood functions: the likelihood over the monozygotic and dizygotic twins separately, and the likelihood over the two twin types combined. Both likelihood estimators are consistent. More importantly, the combined likelihood overcomes the drawback of mixture distribution estimation, namely, the slow convergence. It yields correlation coefficient estimator of root-n consistency and allows effective statistical inference on the collective genetic impact. The method is demonstrated by a twin study on immune traits.

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)0.001
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: Other design · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.807
Threshold uncertainty score0.516

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
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 head0.030
GPT teacher head0.363
Teacher spread0.333 · 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