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Record W2984749534 · doi:10.1101/836494

Marker-Trait Complete Analysis

2019· preprint· en· W2984749534 on OpenAlexfundno aff
Yi‐Hui Zhou, Paul J. Gallins, Fred A. Wright

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2019
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersNational Institutes of HealthOntario Genomics InstituteCystic Fibrosis CanadaOntario GenomicsGenome CanadaNorth Carolina State UniversityCystic Fibrosis Foundation
KeywordsTraitResamplingStatisticPermutation (music)InferenceMultiple comparisons problemTest statisticQuantitative trait locusStatisticsMathematicsStatistical hypothesis testingComputer scienceBiologyArtificial intelligenceGeneticsGene

Abstract

fetched live from OpenAlex

1 Abstract A recurring problem in genomics involves testing association of one or more traits of interest to multiple genomic features. Feature-trait squared correlations r 2 are commonly-used statistics, sensitive to trend associations. It is often of interest to perform testing across collections { r 2 } over markers and/or traits using both maxima and sums. However, both trait-trait correlations and marker-marker correlations may be strong and must be considered. The primary tools for multiple testing suffer from various shortcomings, including p -value inaccuracies due to asymptotic methods that may not be applicable. Moreover, there is a lack of general tools for fast screening and follow-up of regions of interest.To address these difficulties, we propose the MTCA approach, for M arker- T rait C omplete A nalysis. MTCA encompasses a large number of existing approaches, and provides accurate p -values over markers and traits for maxima and sums of r 2 statistics. MTCA uses the conditional inference implicit in permutation as a motivational frame-work, but provides an option for fast screening with two novel tools: (i) a multivariate-normal approximation for the max statistic, and (ii) the concept of eigenvalue-conditional moments for the sum statistic. We provide examples for gene-based association testing of a continuous phenotype and cis-eQTL analysis, but MTCA can be applied in a much wider variety of settings and platforms.

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)0.010
metaresearch head score (Gemma)0.031
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.016
Threshold uncertainty score0.054

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0100.031
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0030.003
Bibliometrics0.0020.004
Science and technology studies0.0010.001
Scholarly communication0.0030.002
Open science0.0020.003
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0160.006

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 head0.015
GPT teacher head0.234
Teacher spread0.219 · 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 designBench or experimental
Domainnot available
GenreEmpirical

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".

Quick stats

Citations0
Published2019
Admission routes1
Has abstractyes

Explore more

Same venuebioRxiv (Cold Spring Harbor Laboratory)→Same topicGenetic Associations and Epidemiology→French-language works237,207→