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Record W3213819329 · doi:10.1016/j.xgen.2021.100029

GA4GH: International policies and standards for data sharing across genomic research and healthcare

2021· article· en· W3213819329 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueCell Genomics · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsIndoc ResearchGoogle (Canada)Vector InstituteUniversity of TorontoUniversity Health NetworkMcGill UniversityOntario Institute for Cancer ResearchCanada's Michael Smith Genome Sciences CentreUniversity of WaterlooGenome CanadaOntario Genomics
FundersInstitute of GeneticsU.S. National Library of MedicineNational Cancer InstituteNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteHorizon 2020Instituto de Salud Carlos IIIMedical Research CouncilNatural Sciences and Engineering Research Council of CanadaCanadian Institutes of Health ResearchNational Health and Medical Research CouncilResearch Institute, Nationwide Children's HospitalCompute CanadaInnovative Medicines InitiativeNovo Nordisk FondenTerry Fox Research InstituteBayer FundEidgenössische Technische Hochschule ZürichAcademy of FinlandGovernment of OntarioNational Taiwan UniversityInstitut National de la Santé et de la Recherche MédicaleMicrosoftNational University of SingaporeInstitute for Research in BiomedicineGovernment of CanadaAdditional VenturesNational Center for Advancing Translational SciencesSeventh Framework ProgrammeSwiss Institute of BioinformaticsInvitaeInternational Business Machines CorporationCanada Research ChairsCotton Research and Development CorporationVirginia Marine Resources CommissionGoogleEOSC-LifeChan Zuckerberg InitiativeWellcome TrustRobertson FoundationNovo NordiskGenome CanadaEuropean Molecular Biology LaboratoryCanarieBroad InstituteState Government of VictoriaCenter for Individualized Medicine, Mayo ClinicDeutsche ForschungsgemeinschaftJapan Agency for Medical Research and DevelopmentNovartisAgency for Science, Technology and ResearchAmazon Web ServicesHoward Hughes Medical InstituteNational Institute on Handicapped ResearchFoundation MedicineMayo ClinicVanderbilt UniversityIntel CorporationStaatssekretariat für Bildung, Forschung und Innovation“la Caixa” FoundationNational Institutes of HealthVanderbilt-Ingram Cancer CenterNational Institute of General Medical SciencesOntario Genomics InstituteCanada Foundation for InnovationNationwide Children's Hospital
KeywordsInteroperabilityData sharingSuiteData scienceHealth careGenomicsBig dataKey (lock)AllianceKnowledge managementComputer scienceBusinessGenomeWorld Wide WebPolitical scienceMedicineComputer securityBiologyData mining

Abstract

fetched live from OpenAlex

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.

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.

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)0.001
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: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.892
Threshold uncertainty score0.474

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
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 science0.0000.002
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 head0.100
GPT teacher head0.420
Teacher spread0.319 · 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