{"id":"W7161947989","doi":"10.82308/54715","title":"From clinically tested to newly discovered: validation of breast and ovarian cancer predisposing variants","year":2020,"lang":"en","type":"dissertation","venue":"","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"PALB2; Ovarian cancer; Breast cancer; Genetic testing; Genotyping; Germline; Genotype; Population; Cancer","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":[0.003775109,0.0004925036,0.0003396026,0.001485422,0.0007544581,0.001302171,0.001187546,0.0008048648,0.001818408],"category_scores_gemma":[0.01036461,0.0001777409,0.0004440949,0.0008641301,0.001244369,0.0002952216,0.0004348524,0.000529667,0.0006982287],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002430043,"about_ca_system_score_gemma":0.002229073,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1596999,"about_ca_topic_score_gemma":0.1991223,"domain_scores_codex":[0.9968778,0.0004672429,0.0002012577,0.0007678142,0.00138565,0.0003001755],"domain_scores_gemma":[0.9947197,0.001388177,0.0006028687,0.0003519704,0.002537814,0.0003993685],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0007114412,0.00009830532,0.9392679,0.0001990834,0.0001549176,0.001361787,0.001695003,0.0004852702,0.02400892,0.0005746164,0.001777537,0.02966527],"study_design_scores_gemma":[0.00007324749,0.0008447358,0.9521768,0.0002439965,0.0002905915,0.004161859,0.001489117,0.001953376,0.02346561,0.0002639756,0.01497978,0.00005683776],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9816023,0.004652658,0.002307662,0.0008443024,0.000116269,0.0001708404,0.001824946,0.0001182602,0.008362684],"genre_scores_gemma":[0.9913471,0.001448954,0.002703417,0.0005924728,0.00003866526,0.00004256717,0.00137786,0.00002348036,0.002425462],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1596999,"threshold_uncertainty_score":0.3175406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01309085851247828,"score_gpt":0.3107060257072481,"score_spread":0.2976151671947698,"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."}}