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Record W2542689680 · doi:10.1038/ejhg.2016.137

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

2016· article· en· W2542689680 on OpenAlexaff
Hanns Lochmüller, Yann Le Cam, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Gareth Baynam, Petra Kaufmann, Paul Lasko, Hugh Dawkins, Christopher P. Austin, Kym M. Boycott

Bibliographic record

VenueEuropean Journal of Human Genetics · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsUniversity of OttawaChildren's Hospital of Eastern OntarioMcGill University
FundersNational Center for Advancing Translational Sciences
KeywordsInteroperabilityPaceKnowledge managementQuality (philosophy)Data sharingProcess (computing)Computer scienceBusinessProcess managementMedicineWorld Wide WebAlternative medicinePathology

Abstract

fetched live from OpenAlex

The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, 'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. 'IRDiRC Recognized Resources' is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing.

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)0.300
metaresearch head score (Gemma)0.326
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesMetaresearch
DomainCandidate signal: Incentives · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.700
Threshold uncertainty score0.863

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.3000.326
Meta-epidemiology (narrow)0.0020.003
Meta-epidemiology (broad)0.0030.003
Bibliometrics0.0160.013
Science and technology studies0.0110.018
Scholarly communication0.0360.040
Open science0.0120.052
Research integrity0.0150.014
Insufficient payload (model declined to judge)0.0360.039

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 head0.104
GPT teacher head0.381
Teacher spread0.277 · 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; the direct Gemma label and the distilled Codex classifier agree on what is shown here.

Study designNot applicable
DomainIncentives
GenreOther

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

Citations36
Published2016
Admission routes1
Has abstractyes

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