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Record W2889171754 · doi:10.1101/399402

The genetic architecture of the human cerebral cortex

2018· preprint· en· W2889171754 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2018
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsHolland Bloorview Kids Rehabilitation HospitalUniversity of CalgaryMcGill UniversityDouglas Mental Health University InstituteMontreal Neurological Institute and HospitalUniversity of TorontoSickKids FoundationHospital for Sick Children
FundersFP7 Ideas: European Research CouncilNational Center for Research ResourcesNational Institute of Neurological Disorders and StrokeNational Human Genome Research InstituteHelmholtz Zentrum MünchenNational Health and Medical Research CouncilAustralian Research CouncilBiotechnology and Biological Sciences Research CouncilMedical Research CouncilHorizon 2020 Framework ProgrammeUniversity of California, IrvineUniversity of California, San FranciscoQueensland Brain InstituteUniversity of California, San DiegoUniversity of California, DavisDirectorate for Biological SciencesNational Institutes of HealthMax Planck Instituut voor PsycholinguïstiekDementia Centre for Research CollaborationUniversity of California, Los AngelesAvera Institute for Human GeneticsMacquarie Group FoundationNational Institute on AgingUniversität GreifswaldEpilepsy SocietyInstituut Born-BungeStiftelsen Konsul Thure Carlssons MinneCentre for Cognitive Ageing and Cognitive EpidemiologyRamsay Health CareMinistry of Cultural AffairsVlaamse regeringAlzheimer NederlandNational Healthcare GroupNational Institute of Biomedical Imaging and BioengineeringNovo Nordisk FondenUniversity College London Hospitals NHS Foundation TrustMutuelle Générale de l'Education NationaleUniversiteit AntwerpenSwedish Brain PowerBergens ForskningsstiftelseUniversidade Estadual de CampinasUniversité de BordeauxUniversitetet i OsloNational Center for PTSD, U.S. Department of Veterans AffairsDeutsches Zentrum für Neurodegenerative ErkrankungenUniversitair Medisch Centrum GroningenUniversitetet i BergenHelse Midt-NorgeNational Medical Research CouncilNorges ForskningsrådStockholms Läns LandstingVetenskapsrådetNovo NordiskHelse Sør-Øst RHFMax-Planck-GesellschaftOesterreichische NationalbankKarolinska InstitutetUniversity of TorontoMaryland Population Research Center, University of MarylandMinistero dell’Istruzione, dell’Università e della RicercaAccareNederlandse Organisatie voor Wetenschappelijk OnderzoekFonds Wetenschappelijk OnderzoekSiemens HealthineersInnovative Medicines InitiativeFondation pour la Recherche MédicaleFondazione CariploKing Faisal Specialist Hospital and Research CentreRadboud UniversiteitCompute CanadaRussian Foundation for Basic ResearchVrije Universiteit AmsterdamNorges Teknisk-Naturvitenskapelige UniversitetUniversiteit UtrechtTechnische Universiteit DelftZonMwNational Institute of Mental HealthCase Western Reserve UniversityUSF Health Byrd Alzheimer's InstituteUniversity of SydneyJohns Hopkins UniversityWellcome TrustAgence Nationale de la RechercheMurdoch UniversityDeutsche ForschungsgemeinschaftUniversity of GalwayCardiff UniversityFundação de Amparo à Pesquisa do Estado de São PauloCanadian Institutes of Health ResearchKnut och Alice Wallenbergs StiftelseEuropean CommissionBrown UniversityNewcastle UniversityNIHR Cambridge Biomedical Research CentreMassachusetts General HospitalUniversity College LondonJewish General HospitalAustrian Science FundUniversity of QueenslandNational Institute for Health and Care ResearchAlzheimer's Research TrustGillings School of Public HealthAlzheimer's SocietyKing's College LondonLieber Institute for Brain DevelopmentMinistero della SaluteEuropean Federation of Pharmaceutical Industries and AssociationsInstitut National de la Santé et de la Recherche MédicaleGovernment of OntarioLeids Universitair Medisch CentrumSanofiNeuroscience Research AustraliaYale UniversityUniversity of Texas Health Science Center at HoustonPratt FoundationFoundation for the National Institutes of HealthNational Alliance for Research on Schizophrenia and DepressionDartmouth CollegeBelgian Federal Science Policy OfficeAlbert Einstein College of Medicine, Yeshiva UniversityUniversity of South FloridaBrain and Behavior Research FoundationMcGill UniversityU.S. Department of Veterans AffairsU.S. Department of EnergyHarvard T.H. Chan School of Public HealthFondation pour la Recherche sur AlzheimerRadboud Universitair Medisch CentrumUniversity of New South WalesMedical Center, University of RochesterUniversity of PittsburghWake Forest UniversityDevelopment of Innovative Strategies for a Transdisciplinary approach to ALZheimer's diseaseYork UniversityFondation de l'Avenir pour la Recherche Médicale AppliquéeEU Joint Programme – Neurodegenerative Disease ResearchCentre National de la Recherche ScientifiquePfizerUniversity of WashingtonNational Heart, Lung, and Blood InstituteOhio State UniversityUniversiteit LeidenCleveland ClinicHospital for Sick ChildrenSchool of Medicine, Boston UniversityNorthwestern UniversityTrinity College DublinCurePSPKarl-Franzens-Universität GrazSvenska Forskningsrådet FormasMetLife FoundationEli Lilly and CompanyInstituto de Investigación Marqués de ValdecillaStichting DioraphteMedizinische Universität GrazTexas Tech UniversitySylvia and Charles Viertel Charitable FoundationFondation de FranceUniversity of PennsylvaniaVirginia Commonwealth UniversityNational Center for Advancing Translational SciencesBundesministerium für Bildung und ForschungStanley Medical Research InstituteAge UKUniversity of Southern CaliforniaEmory UniversityAlzheimer's AssociationHersenstichtingU.S. Department of DefenseBrigham and Women's HospitalU.S. Department of Health and Human ServicesGlaxoSmithKlineUniversity of RochesterHeart and Stroke Foundation of CanadaNIHR Newcastle Biomedical Research CentreMission Interministérielle de Lutte Contre les Drogues et les Conduites AddictivesFondation LeducqNational Science FoundationCenter of Excellence for Stress and Mental HealthYeshiva UniversityRush UniversityGeorgetown UniversityScience Foundation IrelandFondazione Cassa di Risparmio di Pistoia e Pescia
KeywordsCortex (anatomy)Human brainBiologyNeuroscienceGenetic architectureCerebral cortexCognitionEvolutionary biologyGeneticsGeneQuantitative trait locus

Abstract

fetched live from OpenAlex

The cerebral cortex underlies our complex cognitive capabilities, yet we know little about the specific genetic loci influencing human cortical structure. To identify genetic variants, including structural variants, impacting cortical structure, we conducted a genome-wide association meta-analysis of brain MRI data from 51,662 individuals. We analysed the surface area and average thickness of the whole cortex and 34 regions with known functional specialisations. We identified 255 nominally significant loci ( P ≤ 5 × 10 −8 ); 199 survived multiple testing correction ( P ≤ 8.3 × 10 −10 ; 187 surface area; 12 thickness). We found significant enrichment for loci influencing total surface area within regulatory elements active during prenatal cortical development, supporting the radial unit hypothesis. Loci impacting regional surface area cluster near genes in Wnt signalling pathways, known to influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson’s disease, insomnia, depression and ADHD. One Sentence Summary Common genetic variation is associated with inter-individual variation in the structure of the human cortex, both globally and within specific regions, and is shared with genetic risk factors for some neuropsychiatric 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.

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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.781
Threshold uncertainty score0.961

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.000
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 head0.009
GPT teacher head0.228
Teacher spread0.218 · 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