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Record W2949814610 · doi:10.1038/s41467-018-07709-6

Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set

2018· article· en· W2949814610 on OpenAlexafffund
J. Khadake, Birgit Meldal, Simona Panni, D. Thorneycroft, K. Van Roey, S. Abbani, Łukasz Salwiński, M. Pellegrini, Marta Iannuccelli, Luana Licata, G. Cesareni, Bernd Roechert, Alan Bridge, M. G. Ammari, F. McCarthy, F. Broackes-Carter, N. Campbell, Anna N. Melidoni, M. Rodríguez-López, Ruth C. Lovering, S. Jagannathan, Carol Chen, David J. Lynn, Sylvie Ricard‐Blum, Uma Mahadevan, Arathi Raghunath, Noemí del‐Toro, Margaret Duesbury, M. H. J. Koch, Livia Perfetto, Anjali Shrivastava, David Ochoa, Omar Wagih, Janet Piñero, Max Kotlyar, Chiara Pastrello, Pedro Beltrão, Laura I. Furlong, Igor Jurišica, Henning Hermjakob, Sandra Orchard, Pablo Porras

Bibliographic record

VenueNature Communications · 2018
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEvolution and Genetic Dynamics
Canadian institutionsUniversity of TorontoUniversity of British ColumbiaDiscovery CentreUniversity Health Network
FundersNational Institute of Allergy and Infectious DiseasesNational Institute of General Medical SciencesNational Eye InstituteNational Human Genome Research InstituteNational Institute of Diabetes and Digestive and Kidney DiseasesInstituto de Salud Carlos IIIHorizon 2020 Framework ProgrammeNational Institutes of HealthEuropean Federation of Pharmaceutical Industries and AssociationsBritish Heart FoundationNational Institute of Mental HealthAustralian GovernmentNational Heart, Lung, and Blood InstituteStaatssekretariat für Bildung, Forschung und InnovationEuropean Bioinformatics InstituteKrembil Foundation
KeywordsVariation (astronomy)Computational biologySet (abstract data type)Data setBiologyGeneticsComputer sciencePhysicsArtificial intelligence

Abstract

fetched live from OpenAlex

The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct phenotypic differences between individuals or result in the development of disease. Physical interactions between molecules are the linking steps underlying most, if not all, cellular processes. Understanding the effects that sequence variation has on a molecule's interactions is a key step towards connecting mechanistic characterization of nonsynonymous variation to phenotype. We present an open access resource created over 14 years by IMEx database curators, featuring 28,000 annotations describing the effect of small sequence changes on physical protein interactions. We describe how this resource was built, the formats in which the data is provided and offer a descriptive analysis of the data set. The data set is publicly available through the IntAct website and is enhanced with every monthly release.

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)0.003
metaresearch head score (Gemma)0.010
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: Observational
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.011
Threshold uncertainty score0.022

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.010
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.004
Science and technology studies0.0010.000
Scholarly communication0.0020.001
Open science0.0010.002
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.002

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 head0.031
GPT teacher head0.381
Teacher spread0.350 · 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

Citations249
Published2018
Admission routes2
Has abstractyes

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Same venueNature CommunicationsSame topicEvolution and Genetic DynamicsFrench-language works237,207