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Record W3122115907 · doi:10.1038/s41588-020-00764-0

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

2021· article· en· W3122115907 on OpenAlexaff
Andrew R. Harper, Anuj Goel, Christopher Grace, Kate Thomson, Steffen E. Petersen, Xiao Hua Xu, Adam Waring, Elizabeth Ormondroyd, Christopher M. Kramer, Carolyn Y. Ho, Stefan Neubauer, Paul Kolm, Raymond Y. Kwong, Sarahfaye Dolman, Patrice Desvigne‐Nickens, John Dimarco, Nancy L. Geller, Dong‐Yun Kim, Cheng Zhang, William S. Weintraub, Theodore P. Abraham, Lisa Anderson, Evan Appelbaum, Camillo Autore, Colin Berry, Elena Biagini, William Bradlow, Chiara Bucciarelli‐Ducci, Amedeo Chiribiri, Lubna Choudhury, Andrew Crean, Dana Dawson, Milind Y. Desai, Eleanor Elstein, Andrew Flett, Matthias G. Friedrich, Stephen B. Heitner, Adam Helms, Daniel Jacoby, Han Kim, Bette Kim, Éric Larose, Masliza Mahmod, Heiko Mahrholdt, Martin S. Maron, Gerry P McCann, Michelle Michels, Saidi Mohiddin, Sherif F. Nagueh, David E. Newby, Iacopo Olivotto, Anjali Owens, François Pierre-Mongeon, Sanjay Prasad, Ornella Rimoldi, Michael Salerno, Jeanette Schulz‐Menger, Mark V. Sherrid, Peter Swoboda, Albert C. van Rossum, Jonathan W. Weinsaft, James A. White, Eric E. Williamson, Rafik Tadros, James S. Ware, Connie R. Bezzina, Martin Farrall, Hugh Watkins

Bibliographic record

VenueNature Genetics · 2021
Typearticle
Languageen
FieldMedicine
TopicCardiomyopathy and Myosin Studies
Canadian institutionsUniversity of CalgaryFoothills Medical CentreMontreal Heart InstituteUniversity Health NetworkUniversity of TorontoRoyal Victoria HospitalMcGill University Health CentreUniversité LavalRoyal Victoria Regional Health Centre
FundersNational Heart, Lung, and Blood InstituteMedical Research CouncilEuropean CommissionDepartment of Health and Social CareNational Institute for Health and Care ResearchNational Institutes of HealthU.S. Department of Health and Human ServicesNIHR BioResourceNovo Nordisk FondenCancer Research UKBiomedical Research CouncilBritish Heart FoundationNIHR Oxford Biomedical Research CentreWellcome TrustWellcomeNHS Blood and Transplant
KeywordsHypertrophic cardiomyopathyBiologyGenome-wide association studyGeneticsMendelian randomizationOdds ratioSarcomereSingle-nucleotide polymorphismCandidate geneInternal medicineGenotypeGeneMedicineGenetic variantsEndocrinology

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 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)0.001
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.017

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.004
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0050.000

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 head0.015
GPT teacher head0.260
Teacher spread0.245 · 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 source (direct Gemma or distilled Codex), not a consensus.

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

Citations339
Published2021
Admission routes1
Has abstractno

Explore more

Same venueNature GeneticsSame topicCardiomyopathy and Myosin StudiesFrench-language works237,207