{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002751698,0.0001388158,0.0003116369,0.0001635585,0.0001484634,0.000005433074,0.0002968581,0.0001259507,0.0001481822],"category_scores_gemma":[0.00004105324,0.0001398673,0.0001981468,0.0004459481,0.0000798765,0.000001263478,0.0002799374,0.0001151084,0.000004427866],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008465257,"about_ca_system_score_gemma":0.00007948268,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000286534,"about_ca_topic_score_gemma":0.00005598666,"domain_scores_codex":[0.9989197,0.0001124844,0.0003290582,0.0003481288,0.0000749692,0.0002156422],"domain_scores_gemma":[0.9990832,0.00003498018,0.0002853757,0.0004192541,0.0001321625,0.00004508608],"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":[0.00002804365,0.0001188845,0.01638645,0.000002675712,0.000468804,3.156037e-7,0.0001836752,0.00380205,0.9778413,0.0007739428,0.0003226812,0.00007119954],"study_design_scores_gemma":[0.002932035,0.002602534,0.6159671,0.000004015531,0.001146015,0.00001266439,0.003133402,0.00390663,0.06590872,0.001053917,0.301807,0.001526005],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945849,0.00121243,0.001559919,0.00003724987,0.0001956091,0.0001417103,0.001403326,0.000007565147,0.0008572956],"genre_scores_gemma":[0.9936287,0.0001384839,0.001439511,0.000107023,0.00006170661,0.00002488641,0.003643234,0.00001670929,0.0009397446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9119326,"threshold_uncertainty_score":0.5703624,"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."}}