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Record W3217131706 · doi:10.1038/s41591-021-01549-6

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

2021· review· en· W3217131706 on OpenAlexafffund
Adebowale Adeyemo, Mary K. Balaconis, Deanna R. Darnes, Segun Fatumo, Palmira Granados Moreno, Chani J. Hodonsky, Michael Inouye, Masahiro Kanai, Bartha Maria Knoppers, Anna Lewis, Alicia R. Martin, Mark I. McCarthy, Michelle N. Meyer, Yukinori Okada, J. Brent Richards, Lucas Richter, Samuli Ripatti, Charles N. Rotimi, Saskia C. Sanderson, Amy C. Sturm, Ricardo A. Verdugo, Elisabeth Widén, Cristen J. Willer, Genevieve L. Wojcik, Alicia Y. Zhou

Bibliographic record

VenueNature Medicine · 2021
Typereview
Languageen
FieldEconomics, Econometrics and Finance
TopicHealth Systems, Economic Evaluations, Quality of Life
Canadian institutionsJewish General HospitalMcGill University
FundersFondo de Fomento al Desarrollo Científico y TecnológicoNational Institute of Mental HealthNIHR Cambridge Biomedical Research CentreJapan Society for the Promotion of ScienceEconomic and Social Research CouncilEngineering and Physical Sciences Research CouncilFonds de Recherche du Québec - SantéAgencia Nacional de Investigación y DesarrolloEuropean CommissionJewish General HospitalKing's College LondonNational Institute on AgingNational Institute for Health and Care ResearchAcademy of FinlandBritish Heart FoundationUniversity of CambridgeWellcome TrustCancer Research UKHealth and Social Care Research and Development DivisionCambridge University HospitalsPublic Health AgencyMoonshot Research and Development ProgramFondation de l'Hôpital général juifRussell Sage FoundationGovernment of CanadaFondation du cancer du sein du QuébecNational Institutes of HealthOpen Philanthropy ProjectGenome CanadaCompute CanadaChief Scientist Office, Scottish Government Health and Social Care DirectorateScottish GovernmentMedical Research CouncilDepartment of Health and Social CareJPB FoundationState Government of VictoriaJapan Agency for Medical Research and DevelopmentMcGill UniversityPublic Health Agency of CanadaCanadian Institutes of Health ResearchLondon School of Hygiene and Tropical MedicineSage Foundation
KeywordsPolygenic risk scoreMedicineEnvironmental healthRisk assessmentBiologyGeneticsComputer science

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

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)0.030
metaresearch head score (Gemma)0.025
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch, Meta-epidemiology (narrow)
Consensus categoriesMetaresearch
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.670
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0300.025
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0050.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.002
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 head0.558
GPT teacher head0.523
Teacher spread0.035 · 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

Citations439
Published2021
Admission routes2
Has abstractno

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