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Record W4399047848 · doi:10.1101/2024.05.25.24307829

Sex-specific risk loci and modified <i>MEF2C</i> expression in ALS

2024· preprint· en· W4399047848 on OpenAlexaff
Ross P. Byrne, Wouter van Rheenen, Tomás DS Gomes, Ciaran Michael Kelly, Emrah Kaçar, Ahmad Al Khleifat, Alfredo Iacoangeli, Ammar Al‐Chalabi, Jan H. Veldink, Russell L. McLaughlin

Bibliographic record

VenuemedRxiv · 2024
Typepreprint
Languageen
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsTrinity College
FundersNIHR Maudsley Biomedical Research CentreSouth London and Maudsley NHS Foundation TrustMotor Neurone Disease AssociationEuropean Regional Development FundEconomic and Social Research CouncilRosetrees TrustMedical Research CouncilSpastic Paraplegia FoundationKing's College LondonScience Foundation IrelandUK Research and InnovationNational Institute for Health and Care ResearchEU Joint Programme – Neurodegenerative Disease ResearchMND ScotlandLifeArc
KeywordsMEF2CExpression (computer science)BiologyGeneticsComputer scienceGene expressionGene

Abstract

fetched live from OpenAlex

Significantly more men develop amyotrophic lateral sclerosis (ALS) than women, and heritability is not uniform between male and female transmissions, together suggesting a role for sex in the genetic aetiology of the disease. We therefore performed sex-stratified genome-wide and transcriptome-wide analyses of ALS risk, identifying six novel sex-specific risk loci including MEF2C , which shows increased expression in female ALS motor neurones. X-chromosome analysis revealed an additional risk locus at IL1RAPL2 .

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)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
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)0.0020.000

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 head0.047
GPT teacher head0.314
Teacher spread0.266 · 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 designObservational
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

Citations3
Published2024
Admission routes1
Has abstractyes

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Same venuemedRxiv→Same topicAmyotrophic Lateral Sclerosis Research→French-language works237,207→