{"id":"W2906428190","doi":"10.1002/ajmg.a.61002","title":"Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts","year":2018,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institute on Minority Health and Health Disparities; Centers for Disease Control and Prevention; National Institute of Dental and Craniofacial Research; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro; Robert Wood Johnson Foundation; National Heart, Lung, and Blood Institute; U.S. Department of Defense; National Institutes of Health; National Science Foundation","keywords":"Genetics; Association (psychology); Genetic association; Biology; Medicine; Genotype; Gene; Single-nucleotide polymorphism; Psychology","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":[0.0009896556,0.0001263078,0.0003257585,0.0001221498,0.00003772409,0.00001065576,0.0003850015,0.0001644478,0.0001016561],"category_scores_gemma":[0.0003154845,0.0001055598,0.00008596681,0.0002936452,0.0005585869,0.000003739179,0.00007068162,0.0002640747,0.000006382375],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004644799,"about_ca_system_score_gemma":0.0008266538,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004072291,"about_ca_topic_score_gemma":0.0002201825,"domain_scores_codex":[0.9976832,0.0002463292,0.0005643477,0.0001941117,0.0009858654,0.0003261851],"domain_scores_gemma":[0.9985452,0.00005442161,0.0005009302,0.0002605223,0.000348307,0.0002906502],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005762653,0.0003911014,0.8746272,0.00004421029,0.0004744891,0.0001835878,0.0005223591,0.00007152218,0.08977666,0.00003401743,0.005298268,0.02800028],"study_design_scores_gemma":[0.003373038,0.007956848,0.9644893,0.0004678809,0.000102302,0.0006506777,0.0003109033,0.0002494396,0.01365585,0.0002123809,0.008110562,0.0004208067],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978219,0.0001967079,0.0006987929,0.0008068919,0.000177886,0.00008251261,0.000006620656,0.000001812503,0.0002068289],"genre_scores_gemma":[0.9963723,0.001489915,0.001309157,0.0001597885,0.0005534072,0.000002276919,0.000004700137,0.00001952884,0.0000889403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08986207,"threshold_uncertainty_score":0.4304605,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009702081461396854,"score_gpt":0.282852210100619,"score_spread":0.2731501286392222,"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."}}