{"id":"W4408111344","doi":"10.1101/2025.03.02.25323165","title":"GEM-Finder: dissecting GWAS variants via long-range interacting cis-regulatory elements with differentiation-specific genes","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Single-cell and spatial transcriptomics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kootenay Association for Science & Technology","funders":"","keywords":"Genome-wide association study; Gene; Computational biology; Range (aeronautics); Biology; Genetics; Single-nucleotide polymorphism; Engineering","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":[0.0002733674,0.0005140247,0.0004290861,0.000135177,0.000218913,0.0001338456,0.0005288947,0.0004327681,0.0000762114],"category_scores_gemma":[0.00005260041,0.0004764992,0.0002146581,0.000110776,0.00006497866,0.00000821168,0.0004217925,0.0005117833,0.000006732982],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005849935,"about_ca_system_score_gemma":0.0001168591,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005881805,"about_ca_topic_score_gemma":0.0003409709,"domain_scores_codex":[0.9975369,0.0001379556,0.0005823551,0.0009967223,0.0003072919,0.0004387661],"domain_scores_gemma":[0.9983975,0.00004306445,0.0003695633,0.0008302852,0.000247202,0.0001123367],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003319075,0.0002795029,0.7598042,0.0004266149,0.0006536178,0.00002262303,0.0002854516,0.0004409982,0.2261325,0.000018476,0.0001615205,0.01144255],"study_design_scores_gemma":[0.002971527,0.000411827,0.7118564,0.001519417,0.0004466545,0.00003440572,0.0002090558,0.003168355,0.2716851,0.0001607264,0.005251157,0.002285406],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9471208,0.001688017,0.04772993,0.00004332416,0.00242269,0.0004326272,0.00005270087,0.00005084977,0.0004590322],"genre_scores_gemma":[0.9961444,0.0004230062,0.001022027,0.00008010394,0.0008067849,0.00006935478,0.0005844912,0.00006747767,0.0008023198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04902361,"threshold_uncertainty_score":0.9997687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01732519987059235,"score_gpt":0.2469814145269533,"score_spread":0.229656214656361,"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."}}