{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009448567,0.0005380797,0.000504553,0.001880435,0.0004679659,0.000489809,0.0003171536,0.0004387497,0.002367011],"category_scores_gemma":[0.003627772,0.0002366899,0.0004878357,0.001195916,0.0002291531,0.0002497325,0.001094072,0.000329885,0.0001926774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002119114,"about_ca_system_score_gemma":0.0002242795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002372317,"about_ca_topic_score_gemma":0.004689546,"domain_scores_codex":[0.9992311,0.0001906841,0.00006472201,0.0003503029,0.00008770794,0.00007554972],"domain_scores_gemma":[0.9987747,0.0006682999,0.0002256514,0.0001641444,0.00004763585,0.0001195326],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001822855,0.0001150693,0.8428046,0.0001651636,0.001147952,0.00603543,0.0009074397,0.008888216,0.09204258,0.0007544932,0.00110701,0.04420929],"study_design_scores_gemma":[0.0001114912,0.0002543359,0.9466191,0.00004066282,0.0005450767,0.00711243,0.0003574157,0.02662116,0.01462611,0.00176449,0.001895352,0.00005235085],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950139,0.00008813021,0.003480072,0.00001943932,0.000002354174,0.00001761345,0.001134293,0.00006041593,0.0001837818],"genre_scores_gemma":[0.9933254,0.00008155486,0.004565116,0.00001664052,0.000004420897,0.00003677754,0.001722133,0.00001951341,0.0002284581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002372317,"threshold_uncertainty_score":0.007918477,"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."}}