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Record W2987965949 · doi:10.1186/s13059-019-1845-6

MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect

2019· article· en· W2987965949 on OpenAlexafffund
Daniel Esposito, Jochen Weile, Jay Shendure, Lea M. Starita, Anthony T. Papenfuss, Frederick P. Roth, Douglas M. Fowler, Alan F. Rubin

Bibliographic record

VenueGenome biology · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEvolution and Genetic Dynamics
Canadian institutionsCanadian Institute for Advanced ResearchSinai Health SystemLunenfeld-Tanenbaum Research InstituteMuscular Dystrophy CanadaUniversity of Toronto
FundersMedical Research CouncilCanadian Institutes of Health ResearchNational Institutes of HealthNational Health and Medical Research CouncilLorenzo and Pamela Galli Charitable TrustAustralian GovernmentUniversity of Washington
KeywordsBiologyComputational biologyMultiplexInteroperabilityHuman geneticsSequence (biology)Computer scienceResource (disambiguation)Open sourceData miningData scienceInformation retrievalBioinformaticsGeneticsWorld Wide WebSoftwareGene

Abstract

fetched live from OpenAlex

Multiplex assays of variant effect (MAVEs), such as deep mutational scans and massively parallel reporter assays, test thousands of sequence variants in a single experiment. Despite the importance of MAVE data for basic and clinical research, there is no standard resource for their discovery and distribution. Here, we present MaveDB ( https://www.mavedb.org ), a public repository for large-scale measurements of sequence variant impact, designed for interoperability with applications to interpret these datasets. We also describe the first such application, MaveVis, which retrieves, visualizes, and contextualizes variant effect maps. Together, the database and applications will empower the community to mine these powerful datasets.

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)0.005
metaresearch head score (Gemma)0.016
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesOpen science
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Software · Consensus signal: none
Teacher disagreement score0.994
Threshold uncertainty score0.078

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.016
Meta-epidemiology (narrow)0.0030.003
Meta-epidemiology (broad)0.0030.002
Bibliometrics0.0070.005
Science and technology studies0.0010.001
Scholarly communication0.0060.003
Open science0.0060.007
Research integrity0.0020.004
Insufficient payload (model declined to judge)0.0230.026

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 head0.017
GPT teacher head0.289
Teacher spread0.273 · 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
Domainnot available
GenreSoftware

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

Citations279
Published2019
Admission routes2
Has abstractyes

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