{"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 &lt;b&gt;&lt;i&gt;TSC2&lt;/i&gt;&lt;/b&gt; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006037238,0.0006540437,0.001349411,0.001047338,0.0001369713,0.000104653,0.0003436734,0.0006188698,0.0001692253],"category_scores_gemma":[0.0004388771,0.0006755095,0.0001509249,0.001431479,0.0003002006,0.0001449983,0.0003864121,0.000619099,0.00002675264],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004813869,"about_ca_system_score_gemma":0.0004866259,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005872367,"about_ca_topic_score_gemma":0.00692892,"domain_scores_codex":[0.9936747,0.001035518,0.001295971,0.001611176,0.0008527453,0.001529879],"domain_scores_gemma":[0.9977105,0.0003734122,0.0002536049,0.0009004169,0.0003551222,0.0004069009],"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":[0.001895264,0.001972287,0.00274487,0.0003617286,0.0003203166,0.09283498,0.002047153,0.002877653,0.8822744,0.0005875303,0.0003299126,0.01175394],"study_design_scores_gemma":[0.0392422,0.01759595,0.6796029,0.003764273,0.0008985477,0.1661832,0.0001126035,0.03091794,0.05554143,0.001716184,0.001750283,0.002674422],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9814985,0.003897128,0.009829516,0.001315921,0.0001748655,0.003019243,0.0001064006,0.00007212595,0.00008630946],"genre_scores_gemma":[0.9887374,0.0005419223,0.008019727,0.0004685851,0.00004493263,0.001577782,0.0003654123,0.0001614848,0.00008274066],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8267329,"threshold_uncertainty_score":0.9995696,"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."}}