{"id":"W7054907745","doi":"","title":"Assessing the Clinical Relevance of BRCA1 BRCT Domain Variants of Uncertain Significance","year":2024,"lang":"en","type":"dissertation","venue":"QSpace (Queen's University Library)","topic":"Magneto-Optical Properties and Applications","field":"Engineering","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"In silico; Classifier (UML); Clinical significance; Missense mutation; Ovarian cancer; Germline; Genetic testing","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001129263,0.0003184613,0.0003860425,0.001239053,0.0002924443,0.0007779566,0.0003955839,0.0005294126,0.001516302],"category_scores_gemma":[0.003834077,0.0001294513,0.0004973232,0.0005764095,0.000175738,0.0002306412,0.0003947696,0.0003989122,0.0003985133],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002944385,"about_ca_system_score_gemma":0.0004125489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005166645,"about_ca_topic_score_gemma":0.01103214,"domain_scores_codex":[0.9993856,0.0001273634,0.00007793516,0.0001702139,0.0001667471,0.00007208394],"domain_scores_gemma":[0.9984492,0.0009842955,0.0002048823,0.00008402902,0.0001822763,0.00009534902],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009765769,0.0001290537,0.9120692,0.0001529365,0.0002184335,0.0008575183,0.0001509705,0.009362466,0.01346397,0.0001958072,0.0033125,0.05911043],"study_design_scores_gemma":[0.00009449857,0.0006728421,0.7414854,0.0001561036,0.0003624654,0.004715534,0.0005647131,0.2237846,0.02012017,0.001055633,0.006906965,0.00008102162],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936799,0.0007388286,0.002348355,0.0001679606,0.00002325263,0.00002375062,0.001647309,0.0002208813,0.001149842],"genre_scores_gemma":[0.9902977,0.0002876308,0.004579515,0.00007362453,0.00001577149,0.00001072228,0.004342779,0.00002416851,0.0003679679],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005166645,"threshold_uncertainty_score":0.01027316,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01494065404580652,"score_gpt":0.2469535732218138,"score_spread":0.2320129191760073,"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."}}