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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 OpenAlexaff
Zonghui Hu, Pengfei Li, Dean Follmann, Jing Qin

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.

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)0.040
metaresearch head score (Gemma)0.098
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: Theoretical or conceptual
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.040
Threshold uncertainty score0.211

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0400.098
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0030.003
Bibliometrics0.0060.005
Science and technology studies0.0010.002
Scholarly communication0.0030.003
Open science0.0040.004
Research integrity0.0030.004
Insufficient payload (model declined to judge)0.0050.001

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 head0.030
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

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 designTheoretical or conceptual
Domainnot available
GenreMethods

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".

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Citations1
Published2022
Admission routes1
Has abstractyes

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