MétaCan
Menu
Back to cohort
Record W4383710760 · doi:10.1186/s13059-024-03223-9

Minimum information and guidelines for reporting a multiplexed assay of variant effect

2024· article· en· W4383710760 on OpenAlexafffund
Melina Claussnitzer, Victoria N. Parikh, Alex H. Wagner, Jeremy A. Arbesfeld, Carol J. Bult, Helen V. Firth, Lara A. Muffley, Alex N. Nguyen Ba, Kevin Riehle, Frederick P. Roth, Daniel Tabet, Benedetta Bolognesi, Andrew M. Glazer, Alan F. Rubin

Bibliographic record

VenueGenome biology · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsLunenfeld-Tanenbaum Research InstituteUniversity of Toronto
FundersNational Human Genome Research InstituteCanadian Institutes of Health ResearchNational Institutes of HealthNational Institute of General Medical SciencesNovo NordiskUniversity of TorontoNational Heart, Lung, and Blood InstituteAustralian Government“la Caixa” FoundationMinisterio de Ciencia, Innovación y UniversidadesNatural Sciences and Engineering Research Council of CanadaNational Institute of Diabetes and Digestive and Kidney DiseasesJohns Hopkins UniversityNovo Nordisk FondenBoettcher Foundation
KeywordsBiologyGenome BiologyHuman geneticsComputational biologyComputational genomicsGeneticsEvolutionary biologyGenomicsData scienceGenomeComputer scienceGene

Abstract

fetched live from OpenAlex

Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines has led to a heterogeneous mix of data formats and descriptions, which complicates the downstream use of the resulting datasets. To address these issues and promote reproducibility and reuse of MAVE data, we define a set of minimum information standards for MAVE data and metadata and outline a controlled vocabulary aligned with established biomedical ontologies for describing these experimental designs.

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)0.087
metaresearch head score (Gemma)0.188
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: Reporting · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.913
Threshold uncertainty score0.458

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0870.188
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0180.012
Science and technology studies0.0030.004
Scholarly communication0.0070.006
Open science0.0080.005
Research integrity0.0070.007
Insufficient payload (model declined to judge)0.0080.008

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 head0.023
GPT teacher head0.318
Teacher spread0.294 · 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.

Study designNot applicable
DomainReporting
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

Citations16
Published2024
Admission routes2
Has abstractyes

Explore more

Same venueGenome biologySame topicGenomics and Rare DiseasesFrench-language works237,207