{"id":"W2974323710","doi":"10.1101/778183","title":"Cell type-specific enhancer-promoter connectivity maps in the human brain and disease risk association","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Single-cell and spatial transcriptomics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier de l'Université Laval; Centre hospitalier universitaire de Québec","funders":"National Center for Advancing Translational Sciences; University of California, San Diego; National Cancer Institute; National Institutes of Health; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; JPB Foundation; Cure Alzheimer's Fund; Cancer Research Institute; Alzheimer's Association; American Heart Association; Hartwell Foundation","keywords":"Enhancer; Cell type; Biology; Genome-wide association study; Microglia; Gene; Human brain; Interactome; Promoter; Regulatory sequence; Genetics; Regulation of gene expression; Neuroscience; Computational biology; Cell; Transcription factor; Gene expression; Single-nucleotide polymorphism; Immunology; Genotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008985318,0.0003440102,0.0002915881,0.00007104581,0.0001302779,0.0001602259,0.0003521196,0.0004935499,0.000012049],"category_scores_gemma":[0.0002260354,0.0003190424,0.0001072028,0.0001353728,0.00005866959,0.00000836113,0.0001797066,0.0005985089,0.00001864893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001150159,"about_ca_system_score_gemma":0.0002149518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006826187,"about_ca_topic_score_gemma":0.00001685224,"domain_scores_codex":[0.9979748,0.0003673595,0.0002869907,0.0008084027,0.0002204647,0.0003419921],"domain_scores_gemma":[0.9984875,0.00006155767,0.0002936854,0.0008643397,0.0001637617,0.0001291812],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00005369016,0.0001568088,0.107543,0.0001341473,0.00004051441,0.000006739035,0.00001917288,0.0000333696,0.8899187,0.00004016191,0.002051845,0.000001810581],"study_design_scores_gemma":[0.001346965,0.0001787061,0.5862838,0.0001342206,0.0001118208,8.899197e-9,0.000006854779,0.000107646,0.3876255,0.00002256185,0.02324606,0.0009358864],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955869,0.002135792,0.0004230672,0.0002790527,0.0006365521,0.0006110775,0.0002734491,0.00002895982,0.00002516535],"genre_scores_gemma":[0.9982703,0.0007142355,0.0001497679,0.0002889054,0.0004278732,0.00005121704,0.000005500122,0.00006124723,0.00003097227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5022932,"threshold_uncertainty_score":0.9999261,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01110528055187794,"score_gpt":0.2107154029193279,"score_spread":0.19961012236745,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}