{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003524504,0.0002191324,0.0003601392,0.0009899249,0.0001817871,0.0002944416,0.0002506141,0.0003733953,0.0008125966],"category_scores_gemma":[0.00116587,0.0001744821,0.0003043395,0.0007185551,0.0002040766,0.0001171309,0.0001404422,0.0004204015,0.0002587716],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001443362,"about_ca_system_score_gemma":0.0002006509,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008872587,"about_ca_topic_score_gemma":0.001714968,"domain_scores_codex":[0.9997779,0.00004211676,0.00001477656,0.00009504981,0.00005041856,0.00001980206],"domain_scores_gemma":[0.9989262,0.0006391392,0.0002020536,0.00006324757,0.00006034009,0.0001089727],"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":[0.001616676,0.0001383753,0.1671256,0.0002233177,0.0002701882,0.001491729,0.0001539016,0.003464334,0.7948499,0.0008062935,0.000402211,0.02945746],"study_design_scores_gemma":[0.0003161593,0.0007596806,0.6447687,0.00006125207,0.000809964,0.007482143,0.0002011153,0.04146208,0.2954095,0.002836215,0.005844432,0.00004879525],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893066,0.0006256226,0.007889885,0.0001065298,0.0000117228,0.00001661291,0.001558113,0.00009360001,0.0003913182],"genre_scores_gemma":[0.9896693,0.000207013,0.007541902,0.00007479132,0.00002010403,0.00001739039,0.002138051,0.00001942769,0.000312043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009899249,"threshold_uncertainty_score":0.002718389,"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."}}