{"id":"W4205432241","doi":"10.1186/s13059-021-02560-3","title":"Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations","year":2022,"lang":"en","type":"article","venue":"Genome biology","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; National Institute on Minority Health and Health Disparities; National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; National Institutes of Health; Wellcome Trust; Wellcome","keywords":"Genome-wide association study; Biology; Chromatin; Epigenomics; Genetics; Computational biology; Histone; Epigenetics; Single-nucleotide polymorphism; Cell type; DNA methylation; Gene; Cell; Gene expression","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003327391,0.0009384347,0.001852124,0.002589748,0.0007425103,0.001443071,0.0007343328,0.0007230176,0.007218165],"category_scores_gemma":[0.004016038,0.0004931767,0.003294404,0.005580431,0.0004913782,0.0003246234,0.00137961,0.0007935109,0.001475098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003640042,"about_ca_system_score_gemma":0.0008845933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003217798,"about_ca_topic_score_gemma":0.008137188,"domain_scores_codex":[0.9968942,0.0004788145,0.0002900199,0.001455718,0.0005593208,0.0003218397],"domain_scores_gemma":[0.996082,0.002170362,0.000603464,0.0005486005,0.0003336369,0.0002619088],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.002513328,0.0001358865,0.8037556,0.001552142,0.0108057,0.002935134,0.0006502468,0.002672161,0.104329,0.001975126,0.00754633,0.06112934],"study_design_scores_gemma":[0.000210345,0.0002352456,0.9651647,0.0001309913,0.005447316,0.00183097,0.0001961181,0.003025493,0.005325511,0.002409217,0.01594755,0.00007653254],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9188221,0.01071329,0.0255508,0.0005483317,0.0001960471,0.0001164418,0.03736805,0.001921622,0.004763236],"genre_scores_gemma":[0.9533914,0.001960573,0.01641172,0.0005710656,0.0001033258,0.000134018,0.02538904,0.0005601345,0.00147872],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007218165,"threshold_uncertainty_score":0.02414715,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01210075486247611,"score_gpt":0.2306761800728087,"score_spread":0.2185754252103326,"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."}}