{"id":"W4381849996","doi":"10.1016/j.jmoldx.2023.06.006","title":"An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex","year":2023,"lang":"en","type":"article","venue":"Journal of Molecular Diagnostics","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Ministry of Advanced Education and Technology; Tuberous Sclerosis Association","keywords":"TSC1; TSC2; Tuberous sclerosis; Multiplex; Biology; Genetics; Gene; Exon; Allele; Multiplex ligation-dependent probe amplification; Computational biology; Medicine; Pathology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004177153,0.0006813338,0.001199561,0.004509018,0.0009365233,0.00338974,0.001407825,0.001936498,0.002766388],"category_scores_gemma":[0.007105324,0.0005433293,0.0006371822,0.0009925792,0.002496002,0.002601018,0.002503537,0.006502794,0.001427871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001067855,"about_ca_system_score_gemma":0.001900879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009044726,"about_ca_topic_score_gemma":0.0006944663,"domain_scores_codex":[0.9976653,0.0009694498,0.0001806634,0.000239144,0.0007925174,0.0001529313],"domain_scores_gemma":[0.995562,0.001979062,0.0002566823,0.0005204614,0.001276234,0.0004054985],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007620129,0.0007985621,0.03408984,0.001516472,0.0002803332,0.004882141,0.001234276,0.001388578,0.1830886,0.06147687,0.02872667,0.6817557],"study_design_scores_gemma":[0.0003154905,0.002027587,0.0533881,0.002509791,0.0008457171,0.07309094,0.002420389,0.0157809,0.09430187,0.2083732,0.5466325,0.000313621],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.09594396,0.253447,0.3913512,0.1818862,0.009362553,0.0008113254,0.0007304011,0.002039908,0.06442749],"genre_scores_gemma":[0.5016755,0.1430147,0.3043156,0.02552503,0.01159946,0.0005307438,0.0005735809,0.0002611341,0.01250408],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.004509018,"threshold_uncertainty_score":0.02209115,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08467104408537103,"score_gpt":0.3322753749008392,"score_spread":0.2476043308154682,"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."}}