{"id":"W2558713405","doi":"10.1002/gepi.22010","title":"Whole exome association of rare deletions in multiplex oral cleft families","year":2016,"lang":"en","type":"article","venue":"Genetic Epidemiology","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Institut Universitaire en Santé Mentale de Québec","funders":"National Institute of Dental and Craniofacial Research; National Human Genome Research Institute; National Institutes of Health","keywords":"Exome sequencing; Genetics; Biology; Multiplex; Whole genome sequencing; Computational biology; Exome; Rare disease; DNA sequencing; Genome; Gene; Mutation; Disease; Medicine; Pathology","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":[0.001188716,0.0001220469,0.0003186885,0.00009900538,0.00003302843,0.000001959894,0.0001873253,0.0003171077,0.00005692157],"category_scores_gemma":[0.00313602,0.00009282838,0.0001044005,0.0001068386,0.0001194401,0.00000247836,0.0001131407,0.00008799732,0.00004860225],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000417643,"about_ca_system_score_gemma":0.00006987157,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001853044,"about_ca_topic_score_gemma":0.001004384,"domain_scores_codex":[0.9979367,0.0006656575,0.0005314734,0.0003362683,0.000088621,0.0004412844],"domain_scores_gemma":[0.9988205,0.0005017338,0.0001719728,0.000323575,0.0001048725,0.00007731985],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002814645,0.00003075596,0.7081866,0.000009879399,0.00002481503,0.000001143538,0.00002191593,0.00012528,0.280759,0.00003590916,0.001771061,0.009005501],"study_design_scores_gemma":[0.0008431698,0.0001805627,0.9497541,0.00002125436,0.000007234348,0.000005348415,0.0000419068,0.00008382895,0.00624895,0.0008477264,0.0418303,0.0001356585],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946236,0.0003823885,0.002153872,0.002073543,0.0001145984,0.0001650049,0.00006080699,0.000007727155,0.0004184649],"genre_scores_gemma":[0.9940144,0.001685152,0.002291373,0.0002290774,0.0001251447,0.00002110739,0.00005921797,0.00001464986,0.001559865],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.27451,"threshold_uncertainty_score":0.3785432,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03768756616671419,"score_gpt":0.3273168733901338,"score_spread":0.2896293072234196,"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."}}