{"id":"W4394152868","doi":"10.6084/m9.figshare.22611248","title":"Additional file 2 of A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome","year":2023,"lang":"en","type":"dataset","venue":"Open MIND","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Joseph’s Healthcare Hamilton","funders":"","keywords":"Joubert syndrome; Genetics; Nucleotide; Biology; Computational biology; Computer science; 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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001007631,0.001052955,0.001502587,0.001663004,0.0007963883,0.001685385,0.001991789,0.001905492,0.4162361],"category_scores_gemma":[0.01287277,0.0004779311,0.001191222,0.002585609,0.0003059314,0.001003788,0.001053201,0.001164783,0.05322783],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000875067,"about_ca_system_score_gemma":0.001759856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009383273,"about_ca_topic_score_gemma":0.01832535,"domain_scores_codex":[0.9994117,0.00008279252,0.0001029328,0.0002102423,0.00009604732,0.00009633821],"domain_scores_gemma":[0.9933048,0.004692735,0.0005294283,0.0005083186,0.0006765643,0.0002880918],"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":[0.0005115138,0.00006700745,0.007719409,0.004654332,0.0001638865,0.0002559654,0.00005757978,0.0005588317,0.0003408483,0.0007687685,0.9789591,0.005942782],"study_design_scores_gemma":[0.005999083,0.0001835007,0.05619241,0.004186029,0.0006713975,0.001536819,0.0002460586,0.001181932,0.001186596,0.007955844,0.9205295,0.0001308169],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.000138396,0.00002978639,0.00004812566,0.00004075314,0.0000070062,0.00001189645,0.9994664,0.00004344094,0.0002142929],"genre_scores_gemma":[0.003393241,0.0001008456,0.0005432988,0.0002209966,0.00002419481,0.0003134687,0.9940054,0.0001025912,0.001295991],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.4162361,"threshold_uncertainty_score":0.8326683,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01955238930687993,"score_gpt":0.2574064984780527,"score_spread":0.2378541091711728,"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."}}