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Record W3089119819 · doi:10.1101/2020.09.22.20196089

Genetic Architecture of 11 Major Psychiatric Disorders at Biobehavioral, Functional Genomic, and Molecular Genetic Levels of Analysis

2020· preprint· en· W3089119819 on OpenAlexaff
Andrew D. Grotzinger, Travis T. Mallard, Wonuola A. Akingbuwa, Hill F. Ip, Mark J. Adams, Cathryn M. Lewis, Andrew M. McIntosh, Jakob Grove, Søren Dalsgaard, Klaus‐Peter Lesch, Nora I. Strom, Sandra Meier, Manuel Mattheisen, Anders D. Børglum, Ole Mors, Gerome Breen, Phil H. Lee, Kenneth S. Kendler, Jordan W. Smoller, Elliot M. Tucker–Drob, Michel G. Nivard

Bibliographic record

VenuemedRxiv · 2020
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsDalhousie University
FundersNational Institute of Mental HealthMedical Research CouncilSouth London and Maudsley NHS Foundation TrustFritz Thyssen StiftungJacobs FoundationZonMwEuropean CommissionNational Institute for Health and Care ResearchNational Institutes of HealthNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer ResearchDeutsche ForschungsgemeinschaftKing's College LondonUK Research and InnovationNederlandse Organisatie voor Wetenschappelijk OnderzoekWellcome Trust
KeywordsPleiotropyGenetic architectureGenome-wide association studyGeneticsBiologyGenetic associationImaging geneticsGenePsychologyNeuroscienceNeuroimagingSingle-nucleotide polymorphismQuantitative trait locusPhenotypeGenotype

Abstract

fetched live from OpenAlex

Abstract We systematically interrogate the joint genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic, and molecular genetic levels of analysis. We identify four broad factors (Neurodevelopmental, Compulsive, Psychotic, and Internalizing) that underlie genetic correlations among the disorders, and test whether these factors adequately explain their genetic correlations with biobehavioral traits. We introduce Stratified Genomic Structural Equation Modelling, which we use to identify gene sets and genomic regions that disproportionately contribute to pleiotropy, including protein-truncating variant intolerant genes expressed in excitatory and GABAergic brain cells that are enriched for pleiotropy between disorders with psychotic features. Multivariate association analyses detect a total of 152 (20 novel) independent loci which act on the four factors, and identify nine loci that act heterogeneously across disorders within a factor. Despite moderate to high genetic correlations across all 11 disorders, we find very little utility of, or evidence for, a single dimension of genetic risk across psychiatric disorders.

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 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)0.003
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 score0.004
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.016
GPT teacher head0.254
Teacher spread0.238 · 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

Citations56
Published2020
Admission routes1
Has abstractyes

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