Record W4239928779 · doi:10.3410/f.737584496.793573108

Faculty Opinions recommendation of The genetic architecture of the human cerebral cortex.

2020· dataset· en· W4239928779 on OpenAlexfundno aff

Geneviève Konopka

Bibliographic record

VenueFaculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2020

Typedataset

Languageen

FieldBiochemistry, Genetics and Molecular Biology

TopicGenetic Associations and Epidemiology

Canadian institutionsnot available

FundersFP7 Ideas: European Research CouncilNational Institute of Biomedical Imaging and BioengineeringNational Institute of Mental HealthNational Institute on AgingNational Health and Medical Research CouncilBiotechnology and Biological Sciences Research CouncilCanadian Institutes of Health ResearchMaryland Population Research Center, University of MarylandNational Institutes of HealthMacquarie Group FoundationHeinz Nixdorf StiftungMedical Research CouncilEpilepsy SocietyServierMission Interministérielle de Lutte Contre les Drogues et les Conduites AddictivesInnovative Medicines InitiativeFederalno Ministarstvo Obrazovanja i NaukeRamsay Health CareUniversity College London Hospitals NHS Foundation TrustRadboud Universitair Medisch CentrumUniversitetet i BergenDirectorate for Biological SciencesHelse Midt-NorgeFondation de FranceCentre for Cognitive Ageing and Cognitive EpidemiologyStockholms Läns LandstingBundesministerium für Bildung und ForschungHersenstichtingEli Lilly and CompanyRadboud UniversiteitNederlandse Organisatie voor Wetenschappelijk OnderzoekDeutsche ForschungsgemeinschaftH. Lundbeck A/SUniversity of BristolGenentechEuropean CommissionMax-Planck-GesellschaftKing's College LondonLieber Institute for Brain DevelopmentNational Healthcare GroupAlzheimer's AssociationEuropean Federation of Pharmaceutical Industries and AssociationsPfizerEU Joint Programme – Neurodegenerative Disease ResearchBergens ForskningsstiftelseSvenska Forskningsrådet FormasHorizon 2020 Framework ProgrammeVetenskapsrådetUniversiteit UtrechtErasmus+Australian Schizophrenia Research BankNorges ForskningsrådQIMR Berghofer Medical Research InstituteNational Institute for Health and Care ResearchPratt FoundationNorthern California Institute for Research and EducationZonMwNational Center for Research ResourcesNational Alliance for Research on Schizophrenia and DepressionFondation pour la Recherche MédicaleSouth London and Maudsley NHS Foundation TrustNorges Teknisk-Naturvitenskapelige UniversitetAgence Nationale de la RechercheBiogenBioClinicaUniversity College LondonMax Planck Instituut voor PsycholinguïstiekWellcome TrustEisaiFoundation for the National Institutes of HealthAge UKUniversity of Southern CaliforniaFondation de l'Avenir pour la Recherche Médicale AppliquéeF. Hoffmann-La RocheScience Foundation IrelandNational Science FoundationMassachusetts General HospitalSylvia and Charles Viertel Charitable FoundationNational Center for Advancing Translational SciencesNovartis Pharmaceuticals CorporationHoward Hughes Medical InstituteCardiff UniversityU.S. Department of DefenseSimons FoundationBristol-Myers SquibbIXICOKnut och Alice Wallenbergs StiftelseScottish Funding CouncilNational Medical Research CouncilSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungU.S. Department of Veterans AffairsAlzheimer's Disease Neuroimaging InitiativeMeso Scale DiagnosticsKarolinska InstitutetU.S. Department of Energy

KeywordsGenome-wide association studyMedicineNeuroscienceGerontologyPsychologyGeneticsBiologyGeneSingle-nucleotide polymorphism

DOI10.3410/f.737584496.793573108

Abstract

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The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. PMID: 32193296 Funding information This work was supported by: NIA NIH HHS, United States Grant ID: U01 AG049505 NIA NIH HHS, United States Grant ID: R01 AG059874 NIA NIH HHS, United States Grant ID: R01 AG022381 NIDA NIH HHS, United States Grant ID: RC2 DA029475 NIA NIH HHS, United States Grant ID: RF1 AG051710 NHLBI NIH HHS, United States Grant ID: N01HC85081 Medical Research Council, United Kingdom Grant ID: G9815508 NINDS NIH HHS, United States Grant ID: R01 NS042867 NCRR NIH HHS, United States Grant ID: S10 RR023401 NIMH NIH HHS, United States Grant ID: RC1 MH089257 NIMH NIH HHS, United States Grant ID: R01 MH119243 NHLBI NIH HHS, United States Grant ID: N01HC85080 NIMH NIH HHS, United States Grant ID: R01 MH085646 NIMH NIH HHS, United States Grant ID: R01 MH118349 NCATS NIH HHS, United States Grant ID: UL1 TR001881 NHLBI NIH HHS, United States Grant ID: R01 HL087641 NIA NIH HHS, United States Grant ID: R01 AG023629 Medical Research Council, United Kingdom Grant ID: MR/L010305/1 NHLBI NIH HHS, United States Grant ID: N01HC85079 NCRR NIH HHS, United States Grant ID: U24 RR025736 NCRR NIH HHS, United States Grant ID: S10 RR023043 NIMH NIH HHS, United States Grant ID: R01 MH083824 NICHD NIH HHS, United States Grant ID: R01 HD061414 NINDS NIH HHS, United States Grant ID: R01 NS073134 NIH HHS, United States Grant ID: S10 OD023696 Biotechnology and Biological Sciences Research Council, United Kingdom Grant ID: BB/F019394/1 NIMH NIH HHS, United States Grant ID: R01 MH112180 NIA NIH HHS, United States Grant ID: P30 AG010129 NIA NIH HHS, United States Grant ID: R03 AG046413 Wellcome Trust, United Kingdom NIDDK NIH HHS, United States Grant ID: R01 DK092127 Medical Research Council, United Kingdom Grant ID: G0700704 NIDA NIH HHS, United States Grant ID: R01 DA018673 NHLBI NIH HHS, United States Grant ID: N01HC25195 NHLBI NIH HHS, United States Grant ID: HHSN268201100005C NLM NIH HHS, United States Grant ID: R01 LM012535 NHLBI NIH HHS, United States Grant ID: N01HC85083 NHLBI NIH HHS, United States Grant ID: R01 HL070825 NHLBI NIH HHS, United States Grant ID: HHSN268201100009C NIMH NIH HHS, United States Grant ID: P50 MH103222 NCRR NIH HHS, United States Grant ID: U24 RR021992 NIDA NIH HHS, United States Grant ID: R00 DA023549 NIA NIH HHS, United States Grant ID: R01 AG033040 NCATS NIH HHS, United States Grant ID: UL1 TR000153 NIMH NIH HHS, United States Grant ID: R00 MH101367 NIMH NIH HHS, United States Grant ID: U24 MH068457 NIA NIH HHS, United States Grant ID: R56 AG058854 NHLBI NIH HHS, United States Grant ID: R01 HL084099 NIMH NIH HHS, United States Grant ID: K01 MH099232 NIMH NIH HHS, United States Grant ID: R01 MH079799 NHLBI NIH HHS, United States Grant ID: HHSN268201500001I NIBIB NIH HHS, United States Grant ID: R01 EB000840 Medical Research Council, United Kingdom Grant ID: G0701120 NHLBI NIH HHS, United States Grant ID: HHSN268201100005I NIA NIH HHS, United States Grant ID: R01 AG033193 NIMH NIH HHS, United States Grant ID: T32 MH067533 NCRR NIH HHS, United States Grant ID: M01 RR001066 NICHD NIH HHS, United States Grant ID: R01 HD050735 NHLBI NIH HHS, United States Grant ID: HHSN268201200036C NIBIB NIH HHS, United States Grant ID: U54 EB020403 NIMH NIH HHS, United States Grant ID: U01 MH108148 NIMH NIH HHS, United States Grant ID: R00 MH102357 Medical Research Council, United Kingdom Grant ID: MC_PC_15018 NIMH NIH HHS, United States Grant ID: R01 MH117601 NIA NIH HHS, United States Grant ID: R01 AG008122 NIDDK NIH HHS, United States Grant ID: P30 DK063491 NIDA NIH HHS, United States Grant ID: R01 DA027680 NIDA NIH HHS, United States Grant ID: R01 DA025109 NIMH NIH HHS, United States Grant ID: R01 MH058799 NIMH NIH HHS, United States Grant ID: R01 MH078143 NIDA NIH HHS, United States Grant ID: R01 DA031579 NIA NIH HHS, United States Grant ID: T32 AG058507 Medical Research Council, United Kingdom Grant ID: MR/N027558/1 NIDA NIH HHS, United States Grant ID: R37 DA018673 NHLBI NIH HHS, United States Grant ID: R01 HL105756 NHLBI NIH HHS, United States Grant ID: N01HC85086 NIMH NIH HHS, United States Grant ID: R01 MH078111 Medical Research Council, United Kingdom Grant ID: MR/K026992/1 NCRR NIH HHS, United States Grant ID: P41 RR014075 NCATS NIH HHS, United States Grant ID: UL1 TR000124 NIA NIH HHS, United States Grant ID: R01 AG018384 NIA NIH HHS, United States Grant ID: R01 AG049607 NHLBI NIH HHS, United States Grant ID: N01HC55222 NIMH NIH HHS, United States Grant ID: R01 MH085772 NIMH NIH HHS, United States Grant ID: R01 MH116147 NHGRI NIH HHS, United States Grant ID: U01 HG004402 Medical Research Council, United Kingdom Grant ID: MR/R024065/1 Medical Research Council, United Kingdom Grant ID: G1001245 NIA NIH HHS, United States Grant ID: P30 AG062429 NHLBI NIH HHS, United States Grant ID: R01 HL087652 NIMH NIH HHS, United States Grant ID: R01 MH111671 Medical Research Council, United Kingdom Grant ID: MR/M013111/1 CSRD VA, United States Grant ID: I01 CX000497 NHLBI NIH HHS, United States Grant ID: HHSN268201100011C NIBIB NIH HHS, United States Grant ID: R01 EB006841 NHLBI NIH HHS, United States Grant ID: R01 HL086694 Howard Hughes Medical Institute, United States NHLBI NIH HHS, United States Grant ID: HHSN268201100011I NIA NIH HHS, United States Grant ID: K99 AG054573 NIMH NIH HHS, United States Grant ID: R01 MH094524 NINDS NIH HHS, United States Grant ID: R01 NS087541 NIA NIH HHS, United States Grant ID: U01 AG024904 NHLBI NIH HHS, United States Grant ID: HHSN268200800007C NIBIB NIH HHS, United States Grant ID: R01 EB005846 NIA NIH HHS, United States Grant ID: K08 AG047903 NHLBI NIH HHS, United States Grant ID: U01 HL130114 NHLBI NIH HHS, United States Grant ID: R01 HL059367 NIDA NIH HHS, United States Grant ID: R01 DA033369 NHLBI NIH HHS, United States Grant ID: HHSN268201100008I NHLBI NIH HHS, United States Grant ID: HHSN268201100005G NIBIB NIH HHS, United States Grant ID: R01 EB015611 European Research Council, International NHLBI NIH HHS, United States Grant ID: HHSN268201500001C NIMH NIH HHS, United States Grant ID: RC2 MH089995 NHLBI NIH HHS, United States Grant ID: U01 HL080295 NHLBI NIH HHS, United States Grant ID: HHSN268201100008C NIA NIH HHS, United States Grant ID: R03 AG054936 NIA NIH HHS, United States Grant ID: U24 AG021886 NIA NIH HHS, United States Grant ID: R01 AG018386 NIA NIH HHS, United States Grant ID: R01 AG015928 NCRR NIH HHS, United States Grant ID: UL1 RR025005 NHLBI NIH HHS, United States Grant ID: HHSN268201100010C NIA NIH HHS, United States Grant ID: R01 AG022982 NIA NIH HHS, United States Grant ID: R01 AG016495 NIMH NIH HHS, United States Grant ID: R01 MH116948 NHLBI NIH HHS, United States Grant ID: R01 HL120393 NIA NIH HHS, United States Grant ID: R01 AG054076 NIMH NIH HHS, United States Grant ID: R01 MH081802 NIMH NIH HHS, United States Grant ID: K24 MH094614 NIA NIH HHS, United States Grant ID: RF1 AG041915 NINDS NIH HHS, United States Grant ID: R01 NS017950 NIA NIH HHS, United States Grant ID: R00 AG054573 NIDA NIH HHS, United States Grant ID: UG3 DA047685 NIMH NIH HHS, United States Grant ID: R01 MH062873 NIGMS NIH HHS, United States Grant ID: P20 GM103472 NIBIB NIH HHS, United States Grant ID: P41 EB015922 NHLBI NIH HHS, United States Grant ID: HHSN268201100009I NHLBI NIH HHS, United States Grant ID: R01 HL103612 NIMH NIH HHS, United States Grant ID: K08 MH068540 NINDS NIH HHS, United States Grant ID: R24 NS092988 NIMH NIH HHS, United States Grant ID: RC2 MH089951 NHLBI NIH HHS, United States Grant ID: HHSN268201100012C NHLBI NIH HHS, United States Grant ID: N01HC85082 More Less keyboard_arrow_down

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)0.004

metaresearch head score (Gemma)0.018

Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated

Candidate categoriesMetaresearch, Insufficient payload (model declined to judge)

Consensus categoriesnone

DomainCandidate signal: Evaluation · Consensus signal: none

Study designCandidate signal: Not applicable · Consensus signal: Not applicable

GenreCandidate signal: Dataset · Consensus signal: none

Teacher disagreement score0.996

Threshold uncertainty score0.568

Distilled classifier scores by category (both heads)

Category	Codex	Gemma
Metaresearch	0.004	0.018
Meta-epidemiology (narrow)	0.001	0.001
Meta-epidemiology (broad)	0.001	0.002
Bibliometrics	0.003	0.005
Science and technology studies	0.002	0.001
Scholarly communication	0.006	0.003
Open science	0.002	0.002
Research integrity	0.005	0.004
Insufficient payload (model declined to judge)	0.602	0.428

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 head0.025

GPT teacher head0.335

Teacher spread0.310 · 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.

Metaresearch Insufficient payload (model declined to judge)

Study designNot applicable

DomainEvaluation

GenreDataset

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".

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Citations0

Published2020

Admission routes1

Has abstractyes

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