Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the<scp>ENIGMA</scp>working groups on<scp>CNVs</scp>
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
- Meta-epidemiology (narrow)
- Consensus categories
- none
- Domain
- Candidate signal: noneConsensus signal: none
- Study design
- Candidate signal: Not applicableConsensus signal: Not applicable
- Genre
- Candidate signal: ReviewConsensus signal: Review
- Teacher disagreement score
- 0.470
- Threshold uncertainty score
- 1.000
- Validation status
machine_predicted_unvalidated·codex-gemma-dda1882f352a
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 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
- 0.266 · 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
The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This "genotype-first" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.
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
- Human Brain Mapping
- Topic
- Genomic variations and chromosomal abnormalities
- Field
- Biochemistry, Genetics and Molecular Biology
- Canadian institutions
- Holland Bloorview Kids Rehabilitation HospitalUniversité de MontréalCentre Hospitalier Universitaire Sainte-JustineInstitute for Clinical Evaluative SciencesUniversity of British ColumbiaHospital for Sick ChildrenSickKids FoundationUniversity Health NetworkToronto General HospitalUniversity of TorontoCentre for Addiction and Mental Health
- Funders
- FP7 HealthEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Environmental Health SciencesSouth London and Maudsley NHS Foundation TrustNational Institute on Drug AbuseFaculty of Medicine and Health, University of SydneyKing's College LondonEuropean Regional Development FundNational Institute of Mental HealthHelse Sør-Øst RHFNational Health and Medical Research CouncilEpilepsy SocietyMedical Research CouncilAmsterdam NeuroscienceNational Institute of Biomedical Imaging and BioengineeringCanadian Institutes of Health ResearchInstituto de Investigación Marqués de ValdecillaFakultet for medisin og helsevitenskap, Norges Teknisk-Naturvitenskapelige UniversitetHorizon 2020 Framework ProgrammeNational Institutes of HealthAgencia Nacional de Investigación y DesarrolloCanada First Research Excellence FundFondation LeenaardsNorges ForskningsrådNational Center for Research ResourcesNational Alliance for Research on Schizophrenia and DepressionZonMwKoninklijke Nederlandse Akademie van WetenschappenCentro de Investigación Biomédica en Red de Salud MentalInstituto de Salud Carlos IIIHelse Midt-NorgeCanada Research ChairsSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungFondation Brain CanadaMinisterio de Ciencia e InnovaciónEuropean CommissionNational Institute on AgingNational Institute for Health and Care ResearchNorwegian Institute of Public HealthAvera Institute for Human GeneticsNederlandse Organisatie voor Wetenschappelijk OnderzoekWellcome TrustFundación Alicia KoplowitzMichael Smith Health Research BCNorges Teknisk-Naturvitenskapelige UniversitetHeart and Stroke Foundation of CanadaFondation Roger de SpoelberchCompute CanadaNational Science Foundation
- Keywords
- Copy-number variationPsychologyScale (ratio)NeurosciencePsychiatryComputational biologyGeneticsBiologyGeneGenomeCartographyGeography
- Has abstract in OpenAlex
- yes