{"id":"W3140611619","doi":"10.1159/000513326","title":"Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a <b><i>TSC2</i></b> Variant in Renal Tissue","year":2021,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Tuberous sclerosis; TSC2; TSC1; Frameshift mutation; Medicine; Germline mutation; Genetic counseling; Mutation; Germline; Angiomyolipoma; Genetic disorder; Genetic testing; Prenatal diagnosis; Genetics; Pathology; Pregnancy; Kidney; Gene; Internal medicine; Biology; Fetus; Disease","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":[0.0009659082,0.0007808168,0.0006507303,0.003045231,0.001577495,0.001141085,0.001421098,0.005444285,0.001966922],"category_scores_gemma":[0.007897642,0.0006024195,0.0005777389,0.0007739899,0.002048386,0.001524133,0.001298985,0.002999246,0.0007369547],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007562361,"about_ca_system_score_gemma":0.0008464573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001855515,"about_ca_topic_score_gemma":0.00228743,"domain_scores_codex":[0.999221,0.0002068927,0.00009367699,0.0001408377,0.0001504198,0.0001872039],"domain_scores_gemma":[0.9971223,0.001571103,0.0003136245,0.0001565579,0.0001414709,0.0006949297],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000231951,0.00001567939,0.00746138,0.00001406546,0.00000254483,0.989042,0.0002703074,0.00008270644,0.000760046,0.0002193733,0.0002525575,0.001856226],"study_design_scores_gemma":[0.000003115013,0.00003353896,0.001774057,0.00001873646,0.000004398204,0.9965823,0.0002043896,0.0002580162,0.0004214512,0.0002815414,0.0004114394,0.000007080286],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9580714,0.006213728,0.006202709,0.01548114,0.0005401989,0.0001255529,0.0001303106,0.0003004864,0.01293438],"genre_scores_gemma":[0.9924941,0.001186175,0.003558312,0.001387656,0.0004488019,0.00001908933,0.00004075596,0.00003637852,0.0008287529],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005444285,"threshold_uncertainty_score":0.006579995,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01312602817013142,"score_gpt":0.2495652085362257,"score_spread":0.2364391803660942,"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."}}