{"id":"W2977930626","doi":"10.1002/mgg3.992","title":"Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Centre de Santé et de Services Sociaux de Chicoutimi; Université du Québec à Chicoutimi","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Microcephaly; Genetics; Biology; Frameshift mutation; Epilepsy; Exome; Missense mutation; Agenesis of the corpus callosum; Corpus callosum; Proband; Phenotype; Mutation; Gene; Anatomy; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0002058445,0.0004063069,0.0002912068,0.0009161566,0.0007585128,0.0003314457,0.0001681433,0.0004978995,0.001452954],"category_scores_gemma":[0.000509441,0.0001384862,0.0002486572,0.000382273,0.0002373622,0.0001074149,0.0003095513,0.0002217328,0.0002149222],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000221058,"about_ca_system_score_gemma":0.0002254768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002467659,"about_ca_topic_score_gemma":0.003553114,"domain_scores_codex":[0.9998628,0.00001309008,0.00001129863,0.00006647074,0.00002669255,0.00001964071],"domain_scores_gemma":[0.9998061,0.00005535545,0.00003353865,0.0000188082,0.00003137813,0.00005488441],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001057523,0.000226415,0.5863523,0.0001934862,0.0003501515,0.170967,0.004996079,0.0009235024,0.2030165,0.0005502827,0.00164462,0.02972203],"study_design_scores_gemma":[0.00006813265,0.0005374509,0.8095199,0.00004135052,0.0002260649,0.1521204,0.001092128,0.001812796,0.02500239,0.0002625201,0.009280911,0.00003598778],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985769,0.0002514188,0.0003998358,0.00004012987,0.000006667664,0.00001271185,0.0003136842,0.00001068731,0.0003878969],"genre_scores_gemma":[0.9980835,0.0001340193,0.0005940987,0.00006631583,0.00001141389,0.000009895849,0.0004652975,0.000008840886,0.0006266134],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002467659,"threshold_uncertainty_score":0.004906535,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01302426726782811,"score_gpt":0.2209284740189847,"score_spread":0.2079042067511566,"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."}}