{"id":"W4244802385","doi":"10.3410/f.5236960.9949054","title":"Faculty Opinions recommendation of Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.","year":2011,"lang":"en","type":"dataset","venue":"Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"","keywords":"Kabuki syndrome; Exome sequencing; Kabuki; Genetics; Exome; Mutation; Computational biology; Medicine; Biology; Gene","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":[0.00104797,0.001269233,0.001237499,0.002716714,0.000547068,0.002067965,0.002066258,0.001841713,0.1027659],"category_scores_gemma":[0.00767209,0.0005194645,0.001037951,0.003531494,0.000226139,0.0009477125,0.0014087,0.001509245,0.06455471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008102205,"about_ca_system_score_gemma":0.002448011,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01269405,"about_ca_topic_score_gemma":0.03943742,"domain_scores_codex":[0.9992808,0.00008787021,0.00008814281,0.0002051435,0.0002318673,0.0001062687],"domain_scores_gemma":[0.9971339,0.0008180867,0.0003662847,0.0005305834,0.000627788,0.0005234771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001372752,0.00002030025,0.002483587,0.0004535897,0.0000606186,0.00007456166,0.00001009205,0.0001340313,0.000282796,0.000196743,0.9921017,0.004044748],"study_design_scores_gemma":[0.0005681597,0.00003035051,0.02248637,0.0003474644,0.0001967286,0.0004154688,0.00004315265,0.0008320755,0.001396156,0.00127555,0.9723637,0.00004487311],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.0004099826,0.0000768319,0.0001227293,0.0002276445,0.00003412856,0.00001353172,0.9972845,0.0003446311,0.001485987],"genre_scores_gemma":[0.001064276,0.00008680233,0.0003493385,0.0001350781,0.00001537184,0.00003276009,0.9967459,0.0000716453,0.001498808],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.1027659,"threshold_uncertainty_score":0.3437863,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0356246366553262,"score_gpt":0.3405101702520621,"score_spread":0.3048855335967359,"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."}}