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Record W4403189631 · doi:10.1038/s41576-024-00776-0

A call to action to scale up research and clinical genomic data sharing

2024· review· en· W4403189631 on OpenAlexaff
Zornitza Stark, David Glazer, Oliver Hofmann, Augusto Rendon, Christian R. Marshall, Geoffrey S. Ginsburg, Chris Lunt, Naomi E. Allen, Mark Effingham, Jillian Hastings Ward, Sue Hill, Raghib Ali, Peter Goodhand, Angela Page, Heidi L. Rehm, Kathryn N. North, Richard H. Scott

Bibliographic record

VenueNature Reviews Genetics · 2024
Typereview
Languageen
FieldMedicine
TopicEthics in Clinical Research
Canadian institutionsOntario GenomicsOntario Institute for Cancer ResearchHospital for Sick Children
Fundersnot available
KeywordsBiologyComputational biologyScale (ratio)Action (physics)Data scienceEvolutionary biologyComputer scienceCartography

Abstract

fetched live from OpenAlex

Genomic data from millions of individuals have been generated worldwide to drive discovery and clinical impact in precision medicine. Lowering the barriers to using these data collectively is needed to equitably realize the benefits of the diversity and scale of population data. We examine the current landscape of global genomic data sharing, including the evolution of data sharing models from data aggregation through to data visiting, and for certain use cases, cross-cohort analysis using federated approaches across multiple environments. We highlight emerging examples of best practice relating to participant, patient and community engagement; evolution of technical standards, tools and infrastructure; and impact of research and health-care policy. We outline 12 actions we can all take together to scale up efforts to enable safe global data sharing and move beyond projects demonstrating feasibility to routinely cross-analysing research and clinical data sets, optimizing benefit. Global genomic data sharing enhances precision medicine. In this Roadmap, the authors outline evolving data-sharing models, best practices and policy impacts, and propose 12 actions to systematically scale up genomic data 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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.040
metaresearch head score (Gemma)0.039
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch, Meta-epidemiology (narrow), Open science, Research integrity, Insufficient payload (model declined to judge)
Consensus categoriesMetaresearch, Research integrity
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.876
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0400.039
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0040.001
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0030.010
Research integrity0.0040.026
Insufficient payload (model declined to judge)0.0000.004

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 head0.938
GPT teacher head0.784
Teacher spread0.154 · 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; both teacher heads agree on what is shown here.

Study designNot applicable
Domainnot available
GenreReview

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

Citations46
Published2024
Admission routes1
Has abstractyes

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