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Record W2965661716 · doi:10.3389/fgene.2019.00611

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

2019· article· en· W2965661716 on OpenAlexaff
Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Raphael Bernier, François P. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton‐Smith, Benjamin Cogné, Hugh Dawkins, B. deVries, Sofia Douzgou, Tracy Dudding‐Byth, Evan E. Eichler, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David Fitzpatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Ada Hamosh, Jayne Y. Hehir‐Kwa, Marc‐Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R. Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien Marcadier, M. Stephen Meyn, Veronika Moslerová, Juan Politei, Cathryn Poulton, F. Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David Sainsbury, Lyn Schofield, V. Reid Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie

Bibliographic record

VenueFrontiers in Genetics · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsHospital for Sick ChildrenUniversity of TorontoSickKids FoundationAlberta Children's Hospital
FundersNational Human Genome Research InstituteNational Institute of Mental HealthMedical Research CouncilEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentCenters for Disease Control and PreventionNational Institutes of HealthVlaamse regeringMinistero della SaluteFonds Wetenschappelijk Onderzoek
KeywordsData sharingData scienceBig dataPrecision medicineScalabilityComputer scienceCorporate governanceDeep learningHealth carePublic healthMedicineBusinessInternet privacyArtificial intelligencePolitical scienceData miningAlternative medicinePathology

Abstract

fetched live from OpenAlex

The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technologies, precise deep and scalable phenotyping is required to serve unmet need in genetic and rare diseases. To improve the lives of individuals affected with rare diseases through deep phenotyping, global big data interrogation is necessary to aid our understanding of disease biology, assist diagnosis, and develop targeted treatment strategies. This includes the application of cutting-edge machine learning methods to image data. As with most digital tools employed in health care, there are ethical and data governance challenges associated with using identifiable personal image data. There are also risks with failing to deliver on the patient benefits of these new technologies, the biggest of which is posed by data siloing. The Minerva Initiative has been designed to enable the public good of deep phenotyping while mitigating these ethical risks. Its open structure, enabling collaboration and data sharing between individuals, clinicians, researchers and private enterprise, is key for delivering precision public health.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.499
Threshold uncertainty score0.388

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.035
GPT teacher head0.306
Teacher spread0.271 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
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

Citations19
Published2019
Admission routes1
Has abstractyes

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