{"id":"W4408531311","doi":"10.1016/j.gimo.2025.103312","title":"P445: Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Columbia College","funders":"","keywords":"Tuberous sclerosis; Multiplex ligation-dependent probe amplification; Sanger sequencing; Medicine; Internal medicine; Genetics; Pathology; Biology; Mutation; 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":[0.0009062125,0.0007566589,0.0004146377,0.001311926,0.0006061002,0.001066674,0.000365864,0.001229982,0.003662426],"category_scores_gemma":[0.002582149,0.0002466132,0.000345875,0.0004192245,0.0005528664,0.0003692197,0.0003822848,0.0006293353,0.00132203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003324293,"about_ca_system_score_gemma":0.0003069107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001421398,"about_ca_topic_score_gemma":0.002085094,"domain_scores_codex":[0.9989512,0.0001850749,0.0000967443,0.0002458517,0.0003727989,0.0001482497],"domain_scores_gemma":[0.9991702,0.0004574632,0.00006769425,0.00007943797,0.0001372912,0.00008796604],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008918485,0.0001474042,0.3430005,0.000385538,0.0002030983,0.02369471,0.00142039,0.001061958,0.5386938,0.000807739,0.007296984,0.08239602],"study_design_scores_gemma":[0.0000931176,0.0006651862,0.667629,0.0002805798,0.0005678565,0.06779508,0.001336342,0.008738411,0.21124,0.002739574,0.03883979,0.00007509675],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9704942,0.003436666,0.009294657,0.001743602,0.0001946791,0.00012735,0.002133747,0.0005596014,0.01201555],"genre_scores_gemma":[0.9910396,0.0005429063,0.004856457,0.0008737034,0.0001002917,0.00004829599,0.0009205549,0.0001105788,0.001507647],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003662426,"threshold_uncertainty_score":0.01225209,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.106368194995688,"score_gpt":0.4051824372319101,"score_spread":0.298814242236222,"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."}}