{"id":"W3027277977","doi":"10.3390/cancers12051289","title":"Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer","year":2020,"lang":"en","type":"article","venue":"Cancers","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Krembil Foundation; University of Toronto","funders":"Sygehus Lillebælt; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Syddansk Universitet; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; Fundação de Amparo à Pesquisa do Estado de São Paulo","keywords":"Germline mutation; Germline; Breast cancer; Medicine; Thyroid cancer; Cancer research; Mutation; Thyroid; Oncology; Genetics; Cancer; Internal medicine; Biology; 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":[0.0001522394,0.0004848239,0.0002789284,0.001094204,0.0004436657,0.0001711311,0.0002292637,0.000515045,0.002408169],"category_scores_gemma":[0.0006085635,0.0001464302,0.0002323824,0.0009599366,0.0002549921,0.00008776682,0.0002810192,0.0001921527,0.0002869972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001716907,"about_ca_system_score_gemma":0.00009438104,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00126153,"about_ca_topic_score_gemma":0.001270378,"domain_scores_codex":[0.9997442,0.00004382947,0.00003840926,0.00008894749,0.00005026679,0.00003427796],"domain_scores_gemma":[0.9996657,0.0000714366,0.0001501648,0.00002310828,0.0000274607,0.00006220629],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00197263,0.0002053368,0.5340235,0.0002220804,0.0004148303,0.07481423,0.0006303883,0.0004681671,0.3628295,0.0005777692,0.001340472,0.0225011],"study_design_scores_gemma":[0.00004865316,0.0004340857,0.8490809,0.00003910204,0.0002552282,0.1284654,0.0002108877,0.0010922,0.01667639,0.0002615712,0.003408137,0.00002744223],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998336,0.0003885604,0.0003471509,0.00004213093,0.00000854989,0.00001038275,0.000199049,0.00001879309,0.0006494427],"genre_scores_gemma":[0.9992598,0.0001007302,0.0001787593,0.00002402781,0.00001285913,0.000002967911,0.0001349646,0.000005611197,0.0002802755],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002408169,"threshold_uncertainty_score":0.008056164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01161870742776494,"score_gpt":0.232414859196156,"score_spread":0.2207961517683911,"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."}}