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Record W3158453890 · doi:10.1101/2021.04.24.21255884

A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets

2021· preprint· en· W3158453890 on OpenAlexaff
Mohammad Daud Khan, Matteo Di Scipio, Conor Judge, Nicolas Perrot, Michael Chong, Shihong Mao, Shuang Di, Jeremy Petch, Guillaume Paré

Bibliographic record

VenuemedRxiv · 2021
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsImpactThrombosis and Atherosclerosis Research InstituteUniversity of TorontoHamilton Health SciencesPublic Health OntarioMcMaster UniversityPopulation Health Research Institute
Fundersnot available
KeywordsBiobankVariance (accounting)Genome-wide association studyInteractionGene–environment interactionScale (ratio)StatisticsComputational biologyBiologyGeneticsGeneMathematicsSingle-nucleotide polymorphismGenotypeGeography

Abstract

fetched live from OpenAlex

Abstract Current methods to evaluate gene-by-environment (GxE) interactions on biobank-scale datasets are limited. MonsterLM enables multiple linear regression on genome-wide datasets, does not rely on parameters specification and provides unbiased estimates of variance explained by GxE interaction effects. We applied MonsterLM to the UK Biobank for eight blood biomarkers (N=325,991), identifying significant genome-wide interaction variance with waist-to-hip ratio for five biomarkers, with variance explained by interactions ranging from 0.11 to 0.58. 48% to 94% of GxE interaction variance can be attributed to variants without significant marginal association with the phenotype of interest. Conversely, for most traits, >40% of interaction variance was explained by less than 5% of genetic variants. We observed significant improvements in polygenic score prediction with incorporation of GxE interactions in four biomarkers. Our results imply an important contribution of GxE interaction effects, driven largely by a restricted set of variants distinct from loci with strong marginal effects.

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)0.022
metaresearch head score (Gemma)0.051
Version: metacan-v3-hybrid-931329e0061cValidation 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: Methods · Consensus signal: Methods
Teacher disagreement score0.022
Threshold uncertainty score0.116

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0220.051
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.003
Bibliometrics0.0040.003
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0030.003
Research integrity0.0020.003
Insufficient payload (model declined to judge)0.0070.003

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 head0.014
GPT teacher head0.299
Teacher spread0.286 · 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 designSimulation or modeling
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".

Quick stats

Citations0
Published2021
Admission routes1
Has abstractyes

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Same venuemedRxiv→Same topicGenetic Associations and Epidemiology→French-language works237,207→