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Record W2768252762 · doi:10.1002/gepi.22097

A unified partial likelihood approach for X‐chromosome association on time‐to‐event outcomes

2017· article· en· W2768252762 on OpenAlex
Wei Xu, Meiling Hao

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.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueGenetic Epidemiology · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsPrincess Margaret Cancer CentrePublic Health OntarioUniversity of Toronto
FundersCanadian Institutes of Health Research
KeywordsChromosomeStatisticX chromosomeGeneticsGenetic associationBiologyAssociation (psychology)X-inactivationPopulationGenetic modelExpression (computer science)Computational biologyGenotypeStatisticsComputer scienceMathematicsGenePsychologyMedicine

Abstract

fetched live from OpenAlex

The expression of X-chromosome undergoes three possible biological processes: X-chromosome inactivation (XCI), escape of the X-chromosome inactivation (XCI-E), and skewed X-chromosome inactivation (XCI-S). Although these expressions are included in various predesigned genetic variation chip platforms, the X-chromosome has generally been excluded from the majority of genome-wide association studies analyses; this is most likely due to the lack of a standardized method in handling X-chromosomal genotype data. To analyze the X-linked genetic association for time-to-event outcomes with the actual process unknown, we propose a unified approach of maximizing the partial likelihood over all of the potential biological processes. The proposed method can be used to infer the true biological process and derive unbiased estimates of the genetic association parameters. A partial likelihood ratio test statistic that has been proved asymptotically chi-square distributed can be used to assess the X-chromosome genetic association. Furthermore, if the X-chromosome expression pertains to the XCI-S process, we can infer the correct skewed direction and magnitude of inactivation, which can elucidate significant findings regarding the genetic mechanism. A population-level model and a more general subject-level model have been developed to model the XCI-S process. Finite sample performance of this novel method is examined via extensive simulation studies. An application is illustrated with implementation of the method on a cancer genetic study with survival outcome.

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)0.004
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: Empirical
Teacher disagreement score0.220
Threshold uncertainty score0.870

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
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 head0.032
GPT teacher head0.328
Teacher spread0.296 · 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