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Record W1981543987 · doi:10.1186/1753-6561-8-s1-s92

Mixed-effects models for joint modeling of sequence data in longitudinal studies

2014· article· en· W1981543987 on OpenAlex

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

VenueBMC Proceedings · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMount Sinai Hospital
FundersNational Institute of General Medical SciencesNational Institutes of HealthTexas Biomedical Research Institute
KeywordsSingle-nucleotide polymorphismGenotypeGeneticsGenome-wide association studyMixed modelRandom effects modelSequence (biology)MedicineGeneBiologyBioinformaticsInternal medicineMathematicsMeta-analysisStatistics

Abstract

fetched live from OpenAlex

In this paper, we propose a novel mixed-effects model for longitudinal changes of systolic blood pressure (SBP) over time that can estimate the joint effect of multiple sequence variants on SBP after accounting for familial correlation and the time dependencies within individuals. First we carried out agenome-wide association study (GWAS) using chromosome 3 single-nucleotide polymorphisms(SNPs) to identify regions associated with SBP levels. In a second step, we examined the sequence data to fine-map additional variants in these regions. Four SNPs from two intergenic regions (PLXNA1-TPRA1, BPESC1-PISTR1) and one gene (NLGN1) were detected to be significantly associated with SBP after adjusting for multiple testing. These SNPs were used to capture the multilocus genotype diversity in the regions. The multilocus genotypes derived from these four variants were then treated as random effects in the mixed-effects model, and the corresponding confidence intervals (Cis) were built to assess the significance of the joint effect of the sequence variants on SBP. We found that multilocus genotypes (GG,TT,AG,GG), (GG,TT,GG,GG), and (GG,TT,AA,AG) are associated with higher SBPand (GG,CT,AA,AA), (AA,TT,AA,AA), and (AG,CT,AA,AG) are associated with lower SBP. The linear mixed-effects models provide a powerful tool for GWAS and the analysis of joint modeling of multilocus genotypes.

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)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.849
Threshold uncertainty score0.409

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.002
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 science0.0000.000
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 head0.218
GPT teacher head0.352
Teacher spread0.134 · 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