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Improved functional mapping of complex trait heritability with GSA-MiXeR implicates biologically specific gene sets
Oleksandr Frei, Guy Hindley, Alexey Shadrin, Dennis van der Meer, Bayram Cevdet Akdeniz, Espen Hagen, Weiqiu Cheng, Kevin S. O’Connell, Shahram Bahrami, Nadine Parker, Olav B. Smeland, Dominic Holland, Christiaan de Leeuw, Daniëlle Posthuma, Ole A. Andreassen, Anders M. Dale
Bibliographic record
VenueNature Genetics · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersDavid Geffen School of Medicine, University of California, Los AngelesUniversidad de GranadaNIH Clinical CenterNational Heart, Lung, and Blood InstituteNational Institute on AgingSorbonne UniversitéState University of New York Upstate Medical UniversityServicio Gallego de SaludUniversity of SydneyNational Institute of Mental HealthHelse Sør-Øst RHFMedical Research CouncilNIHR Maudsley Biomedical Research CentreCentro de Investigación Biomédica en Red de Salud MentalDepartment of Psychology, Harvard UniversityInstitute of Psychiatry, Psychology and Neuroscience, King’s College LondonVeterans Affairs San Diego Healthcare SystemNational Taiwan University HospitalUniversity of California, Los AngelesUniversity of South AustraliaGraduate School of Frontier Sciences, University of TokyoHebrew University of JerusalemUniversité de ParisInstitut National de la Santé et de la Recherche MédicaleSun Yat-sen UniversityHumboldt-Universität zu BerlinH. Lundbeck A/SNasjonalforeningen for FolkehelsenUniversity of Chinese Academy of SciencesCentre d'Imagerie BioMédicaleStony Brook UniversityPomorski Uniwersytet Medyczny W SzczecinieRheinische Friedrich-Wilhelms-Universität BonnMassachusetts General HospitalUniversity of Colorado BoulderUniversitas IndonesiaUniversity of California, San DiegoUniversitetet i OsloNational and Kapodistrian University of AthensUniversitetet i BergenH2020 Marie Skłodowska-Curie ActionsMcGill UniversitySamfundet FolkhälsanTerveyden ja hyvinvoinnin laitosUniversitat de BarcelonaKing's College LondonCentre National de la Recherche ScientifiqueMedizinische Universität WienEuskal Herriko UnibertsitateaDepartment of Psychiatry, Columbia UniversityUniversität WienHelsingin YliopistoChonnam National UniversityUniversity of NicosiaSouth Australian Health and Medical Research InstituteUniversitair Medisch Centrum UtrechtChinese Academy of SciencesStatens Serum InstitutJanssen Research and DevelopmentRIKENUniversität HeidelbergUniversiteit van AmsterdamNorges ForskningsrådUniversity of LeicesterUniversité de RouenNational Taiwan UniversitySouth London and Maudsley NHS Foundation TrustUniversity of TokyoNational University of SingaporeNorthShore University HealthSystemEuropean CommissionInstitute of GeneticsBroad InstituteNational Institute on Drug AbuseMonash UniversityVA Greater Los Angeles Healthcare SystemUniversity College CorkSunovionUniversity of New South WalesUniversiteit MaastrichtF. Hoffmann-La RocheEuroscienceNational Institutes of HealthSyracuse UniversityUniversity of MelbourneUniversity of North Carolina at Chapel HillHarvard UniversityUniversity of PennsylvaniaNational Research CentrePhilipps-Universität MarburgUniversity of ChicagoHorizon 2020 Framework ProgrammeRégion NormandieFujita Health UniversityUniversiteit UtrechtUniversidad de OviedoUniversität BaselNational Institute for Health and Care ResearchState University of New YorkVirginia Commonwealth UniversityYale University
KeywordsBiologyLinkage disequilibriumHeritabilityComputational biologyGeneticsGeneQuantitative trait locusGenome-wide association studyGenetic associationTraitGene regulatory networkAlleleSingle-nucleotide polymorphismHaplotypeGene expressionGenotypeComputer science
Abstract
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 imitationNot 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)0.002
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.007
Threshold uncertainty score0.023
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.002 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.007 | 0.001 |
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 head0.024
GPT teacher head0.266
Teacher spread0.242 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine 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 designSimulation or modeling
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
Citations31
Published2024
Admission routes1
Has abstractno