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Record W2776597027 · doi:10.17615/4xr8-gp35

Genetic influences on schizophrenia and subcortical brain volumes: Large-scale proof of concept

2016· article· en· W2776597027 on OpenAlexfundno aff
Barbara Franke, Jason L. Stein, Stephan Ripke, Verneri Anttila, Derrek P. Hibar, K.J.E. van Hulzen, Alejandro Arias Vásquez, Jordan W. Smoller, Thomas E. Nichols, Michael C. Neale, Andrew M. McIntosh, Phil Lee, Francis J. McMahon, Andreas Meyer‐Lindenberg, Manuel Mattheisen, Ole A. Andreassen, Oliver Gruber, Perminder S. Sachdev, Roberto Roiz‐Santiáñez, Andrew J. Saykin, Stefan Ehrlich, Karen A. Mather, Jessica A. Turner, Emanuel Schwarz, Anbupalam Thalamuthu, Yin Yao Shugart, Yvonne Ho, Nicholas G. Martin, Margaret J. Wright, Paul M. Thompson, Benjamin M. Neale, Sarah E. Medland, Patrick F. Sullivan

Bibliographic record

VenueMURAL - Maynooth University Research Archive Library (National University of Ireland, Maynooth) · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersScottish Mental Health Research NetworkNational Center for Research ResourcesNational Institute of Biomedical Imaging and BioengineeringNational Institute of Mental HealthStrategic Research CouncilNational Health and Medical Research CouncilKnut och Alice Wallenbergs StiftelseEuropean CommissionCanadian Institutes of Health ResearchAthinoula A. Martinos Center for Biomedical Imaging, Massachusetts General HospitalStanley Center for Psychiatric Research, Broad InstituteNational Institutes of HealthBiogenHøjteknologifondenRamsay Health CareH. Lundbeck A/SMedical Research CouncilAcademy of FinlandServierTartu ÜlikoolUppsala UniversitetUniversity of New South WalesRadboud Universitair Medisch CentrumUniversitair Medisch Centrum GroningenBiomedical Research CouncilUniversitetet i BergenKarolinska InstitutetLundbeckfondenAccareNational Cancer InstituteEuropean Regional Development FundMax-Planck-GesellschaftBergens ForskningsstiftelseSvenska Forskningsrådet FormasVrije Universiteit AmsterdamStockholms Läns LandstingNorges ForskningsrådNational Medical Research CouncilUniversiteit LeidenAustralian Schizophrenia Research BankNederlandse Organisatie voor Wetenschappelijk OnderzoekDeutsche ForschungsgemeinschaftGenentechBroad InstituteAustralian GovernmentAgency for Science, Technology and ResearchNorthern California Institute for Research and EducationStrategiske ForskningsrådZonMwCentre d'Imagerie BioMédicaleEisaiLeids Universitair Medisch CentrumRiksbankens JubileumsfondFoundation for the National Institutes of HealthNational Alliance for Research on Schizophrenia and DepressionHersenstichtingU.S. Department of DefenseCommonwealth Scientific and Industrial Research OrganisationNational Institute for Health and Care ResearchPratt FoundationNHS Blood and TransplantSylvia and Charles Viertel Charitable FoundationSeventh Framework ProgrammeNovartis Pharmaceuticals CorporationUniversity of California, San DiegoWellcome TrustJohns Hopkins UniversityPfizerUniversität GreifswaldAustralian Research CouncilBioClinicaUniversity of MelbourneScience for Life LaboratoryAkademiska SjukhusetHarvard UniversityBundesministerium für Bildung und ForschungMedpaceStanley Medical Research InstituteSynarcMax Planck Instituut voor PsycholinguïstiekUniversity of Southern CaliforniaScience Foundation IrelandNational Science FoundationScottish Funding CouncilMassachusetts General HospitalGlaxoSmithKlineRadboud UniversiteitEli Lilly and CompanyAlzheimer's Disease Neuroimaging InitiativeMax-Planck-FörderstiftungAutism SpeaksBristol-Myers SquibbIXICOAlfried Krupp von Bohlen und Halbach-StiftungAlzheimer's AssociationBritish Medical AssociationU.S. Department of Veterans AffairsVetenskapsrådetUniversiteit UtrechtAarhus UniversitetMeso Scale Diagnostics
KeywordsSchizophrenia (object-oriented programming)HeritabilityGenetic architectureBrain sizeGenome-wide association studyGenetic associationImaging geneticsNeuroimagingGenetic correlationPsychologyGenetic variationNeurosciencePsychiatryPhenotypeMedicineGeneticsBiologySingle-nucleotide polymorphismGeneGenotype

Abstract

fetched live from OpenAlex

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for 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)0.009
metaresearch head score (Gemma)0.017
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 score0.009
Threshold uncertainty score0.049

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0090.017
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0010.001
Science and technology studies0.0010.002
Scholarly communication0.0020.001
Open science0.0020.003
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0070.001

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 head0.015
GPT teacher head0.245
Teacher spread0.230 · 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

Citations1
Published2016
Admission routes1
Has abstractyes

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