{"id":"W3112068339","doi":"10.1093/neuonc/noaa222.733","title":"RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS","year":2020,"lang":"en","type":"article","venue":"Neuro-Oncology","topic":"Neuroblastoma Research and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; University of Toronto; Jewish General Hospital; University Health Network; McGill University","funders":"","keywords":"Germline; Germline mutation; Schwannoma; Biology; Cancer research; Thyroid cancer; Somatic cell; Wilms' tumor; SMARCB1; Thyroid; Pathology; Medicine; Mutation; Genetics; 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":[0.000179562,0.00116201,0.0003187699,0.001043539,0.000673635,0.0002828611,0.0003300548,0.001034634,0.007854381],"category_scores_gemma":[0.0005837317,0.0002025216,0.0004519314,0.0004486743,0.0004425398,0.0001452023,0.0003991642,0.0004759473,0.0008382757],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002861286,"about_ca_system_score_gemma":0.0001853413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001898099,"about_ca_topic_score_gemma":0.001671288,"domain_scores_codex":[0.9997316,0.00004672038,0.00003978553,0.00008149444,0.00005526973,0.0000451119],"domain_scores_gemma":[0.9994639,0.0001559172,0.0001510716,0.00002616428,0.00003924096,0.0001637577],"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":[0.001289254,0.0003539495,0.1341393,0.000127619,0.0002313754,0.3984523,0.0006873587,0.0004740205,0.4502943,0.001017142,0.001507062,0.01142628],"study_design_scores_gemma":[0.0001917677,0.0007831981,0.3144622,0.0001146224,0.0002147848,0.6376737,0.000391547,0.00156183,0.0372401,0.0003951994,0.006912109,0.00005890226],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964151,0.0002441304,0.0006579726,0.0001310872,0.00003668607,0.00003664061,0.0004266176,0.00005942516,0.001992268],"genre_scores_gemma":[0.9982812,0.00004560423,0.0003366852,0.00005344417,0.00003062956,0.000009393991,0.0002080694,0.00001560855,0.001019365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007854381,"threshold_uncertainty_score":0.02627552,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04108704870604132,"score_gpt":0.3233916856927949,"score_spread":0.2823046369867536,"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."}}