{"id":"W2081324583","doi":"10.1016/j.ygeno.2006.01.001","title":"Detection and characterization of DNA variants in the promoter regions of hundreds of human disease candidate genes","year":2006,"lang":"en","type":"article","venue":"Genomics","topic":"Bioinformatics and Genomic Networks","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Biology; Single-nucleotide polymorphism; Genetics; Gene; Promoter; Computational biology; Transcription factor; Gene expression; 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":[],"consensus_categories":[],"category_scores_codex":[0.0001075997,0.00005135715,0.00008105259,0.00002816904,0.00002330487,0.000004365704,0.00006828817,0.00005015859,8.592053e-7],"category_scores_gemma":[0.000002135737,0.00004350778,0.00002495297,0.00004072329,0.00005328199,0.000002764885,0.0000301965,0.00002322465,7.339034e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004243683,"about_ca_system_score_gemma":0.00002156134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005655756,"about_ca_topic_score_gemma":0.0001300855,"domain_scores_codex":[0.9995872,0.00002008602,0.0002213308,0.00007064076,0.00003446683,0.00006620865],"domain_scores_gemma":[0.9996465,0.000002368394,0.000154029,0.0001584944,0.00002555682,0.00001306116],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0000301537,0.00003010097,0.001472075,0.00003820816,0.000008322799,1.797871e-7,0.0001208273,0.00003382818,0.9965374,0.0001754137,0.000005222475,0.001548236],"study_design_scores_gemma":[0.0007534045,0.0002496912,0.3326335,0.00003075091,0.00005601616,0.000007014949,0.0000957605,0.001633104,0.661503,0.001756166,0.001111214,0.0001704296],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976317,0.0001244224,0.001930771,0.00002570485,0.00002468489,0.0001402915,0.00004617925,7.551436e-7,0.00007548036],"genre_scores_gemma":[0.9995656,0.0001176304,0.00007876242,0.00001733071,0.00004886231,0.000004020993,0.0001404843,0.000005069344,0.00002222749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3350345,"threshold_uncertainty_score":0.1774196,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005840379577770856,"score_gpt":0.2010210695643088,"score_spread":0.1951806899865379,"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."}}