{"id":"W1939044377","doi":"10.1002/path.4225","title":"Familial rhabdoid tumour '<i>avant la lettre</i>'—from pathology review to exome sequencing and back again","year":2013,"lang":"en","type":"article","venue":"The Journal of Pathology","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; McGill University Health Centre; McGill University; BC Cancer Agency; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre; Jewish General Hospital","funders":"Medical Research Council; Sparks; Canadian Institutes of Health Research; Susan G. Komen; Rivkin Center for Ovarian Cancer","keywords":"Exome sequencing; Biology; SMARCA4; Nonsense mutation; Pathology; Germline mutation; Teratoma; Exome; Context (archaeology); Sanger sequencing; Immature teratoma; Mutation; Germ cell tumors; Medicine; Epigenetics; Genetics; Chromatin remodeling; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004740599,0.0003318574,0.0004956333,0.00194332,0.0002820521,0.0007954365,0.0005739371,0.00112888,0.00171239],"category_scores_gemma":[0.001136082,0.0002431689,0.0002455654,0.0009647626,0.000694948,0.001521971,0.000486331,0.001045675,0.00122969],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007173984,"about_ca_system_score_gemma":0.0007090651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001837204,"about_ca_topic_score_gemma":0.002103563,"domain_scores_codex":[0.999797,0.00003513331,0.00003419781,0.00005365652,0.0000528442,0.0000272328],"domain_scores_gemma":[0.9990802,0.0004150066,0.0001297008,0.00003417124,0.0002613114,0.00007960242],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0001091067,0.00003293709,0.001823003,0.005685065,0.0001335939,0.01355044,0.0003179092,0.0003360454,0.004790586,0.006016281,0.2138539,0.7533511],"study_design_scores_gemma":[0.00001104301,0.00005439102,0.003014732,0.00252319,0.00006858858,0.05386274,0.000237244,0.00008111616,0.001237916,0.001642348,0.9372303,0.00003636762],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.00196781,0.9853521,0.0005518757,0.007423271,0.002097973,0.000004705148,0.00005381229,0.00004980014,0.002498579],"genre_scores_gemma":[0.01961219,0.9596629,0.0008906934,0.009746138,0.006036103,0.0000110821,0.0002065403,0.00002503843,0.003809325],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00194332,"threshold_uncertainty_score":0.005728483,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01540321709331258,"score_gpt":0.2586435574951964,"score_spread":0.2432403404018838,"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."}}