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Brain cell type–specific enhancer–promoter interactome maps and disease <b>-</b> risk association

2019· article· en· 793 citations· W2988958689 on OpenAlex· 10.1126/science.aay0793

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.

Canadian affiliationAn author listed a Canadian institution. This is the only route the usual frame has.
Canadian funderA Canadian agency funded it. The work may carry no Canadian affiliation at all.

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: Bench or experimentalConsensus signal: none
Genre
Candidate signal: EmpiricalConsensus signal: Empirical
Teacher disagreement score
0.775
Threshold uncertainty score
0.249
Validation status
machine_predicted_unvalidated · codex-gemma-dda1882f352a

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.003
GPT teacher head0.210
Teacher spread
0.207 · 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

Linking enhancers to disease Enhancers are genomic regions that regulate gene expression, sometimes in a cell-dependent manner. However, most of our knowledge of human brain cell–type enhancers derives from studies of bulk human brain tissue. Nott et al. examined chromatin and promoter activity in cell nuclei isolated from human brains. Genetic variants associated with brain traits and disease showed cell-specific patterns of enhancer enrichment. These data indicate that Alzheimer's disease is regulated by genetic variants within microglial cells, whereas psychiatric diseases tend to affect neurons. Science , this issue p. 1134

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
Science
Topic
Bioinformatics and Genomic Networks
Field
Biochemistry, Genetics and Molecular Biology
Canadian institutions
Centre hospitalier de l'Université Laval
Funders
National Institute of Neurological Disorders and StrokeNational Institute of Diabetes and Digestive and Kidney DiseasesNational Cancer InstituteVeterans Affairs San Diego Healthcare SystemUniversity of California, San DiegoUniversitair Medisch Centrum GroningenCentre Hospitalier Universitaire de QuébecNational Center for Advancing Translational SciencesNederlandse Organisatie voor Wetenschappelijk OnderzoekNational Institutes of HealthRijksuniversiteit GroningenLudwig Institute for Cancer ResearchUniversité LavalU.S. Department of Veterans AffairsCancer Research InstituteJPB FoundationNational Institute on AgingAlzheimer's AssociationCure Alzheimer's Fund
Keywords
EnhancerInteractomeBiologyMicrogliaPhenotypePromoterGeneCell typeGeneticsGenetic associationComputational biologyCellGene expressionSingle-nucleotide polymorphismGenotypeImmunology
Has abstract in OpenAlex
yes