1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Why is this work in the frame?
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Full frame distilled prediction
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.
- Candidate categories
- none
- Consensus categories
- none
- Domain
- Candidate signal: noneConsensus signal: none
- Study design
- Candidate signal: ObservationalConsensus signal: Observational
- Genre
- Candidate signal: EmpiricalConsensus signal: Empirical
- Teacher disagreement score
- 0.005
- Threshold uncertainty score
- 0.427
- Validation status
machine_predicted_unvalidated·codex-gemma-dda1882f352a
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
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.
- Teacher spread
- 0.227 · 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 it
Abstract
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
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.
The record
- Venue
- Translational Psychiatry
- Topic
- Genomic variations and chromosomal abnormalities
- Field
- Biochemistry, Genetics and Molecular Biology
- Canadian institutions
- Université de MontréalUniversity of CalgaryUniversity of TorontoHospital for Sick ChildrenHolland Bloorview Kids Rehabilitation HospitalInstitut Universitaire de Gériatrie de MontréalCentre Hospitalier Universitaire Sainte-Justine
- Funders
- CilagFP7 People: Marie-Curie ActionsEuropean Social FundNational Institute on AgingNorwegian Institute of Public HealthNational Institute of Mental HealthHelse Sør-Øst RHFInstituto de Salud Carlos IIINational Health and Medical Research CouncilCanadian Institutes of Health ResearchStanley Center for Psychiatric Research, Broad InstituteNational Institutes of HealthMinistry of Cultural AffairsHeinz Nixdorf StiftungNorwegian Biodiversity Information CentreH. Lundbeck A/SMedical Research CouncilEpilepsy SocietySiemens HealthineersMission Interministérielle de Lutte Contre les Drogues et les Conduites AddictivesUniversity College London Hospitals NHS Foundation TrustUniversiteit AntwerpenFédération pour la Recherche sur le CerveauNorges ForskningsrådUniversitair Medisch Centrum GroningenJapan Society for the Promotion of ScienceAvera Institute for Human GeneticsUniversitetet i BergenFondation de FranceEU Joint Programme – Neurodegenerative Disease ResearchRivierduinenGGZ inGeestFonds Wetenschappelijk OnderzoekFonds De La Recherche Scientifique - FNRSInstitute of Psychiatry, Psychology and Neuroscience, King’s College LondonBundesministerium für Bildung und ForschungUniversiteit MaastrichtStockholms Läns LandstingNational Institute on Drug AbuseSouth London and Maudsley NHS Foundation TrustFondation pour la Recherche MédicaleBergens ForskningsstiftelseJapan Agency for Medical Research and DevelopmentSvenska Forskningsrådet FormasVetenskapsrådetUniversiteit UtrechtHelse Midt-NorgeNational Institute of Child Health and Human DevelopmentHersenstichtingEli Lilly and CompanyRadboud UniversiteitKoninklijke Nederlandse Akademie van WetenschappenAthinoula A. Martinos Center for Biomedical Imaging, Massachusetts General HospitalInstitut National de la Santé et de la Recherche MédicaleEuropean Science FoundationNederlandse Organisatie voor Wetenschappelijk OnderzoekDeutsche ForschungsgemeinschaftNorges Teknisk-Naturvitenskapelige UniversitetBaily Thomas Charitable FundUniversität GreifswaldAgence Nationale de la RechercheGGZ FrieslandKing's College LondonU.S. Department of EnergyKarolinska InstitutetInternational Seafood Sustainability FoundationAXA Research FundMax Planck Instituut voor PsycholinguïstiekWellcome TrustUniversitetet i OsloFondation de l'Avenir pour la Recherche Médicale AppliquéeFP7 HealthWaterloo FoundationHarvard UniversityMassachusetts General HospitalScience Foundation IrelandZonMwCentre d'Imagerie BioMédicaleNational Alliance for Research on Schizophrenia and DepressionEuropean CommissionAstraZenecaGGZ DrentheNational Institute for Health and Care ResearchFoundation for the National Institutes of Health
- Keywords
- Copy-number variationGene duplicationCognitionEffects of sleep deprivation on cognitive performanceAutismSchizophrenia (object-oriented programming)Brain sizeNeuroscienceNeuroimagingMedicinePsychologyMagnetic resonance imagingPsychiatryBiologyGeneticsGene
- Has abstract in OpenAlex
- yes