{"id":"W2981196143","doi":"10.1038/s41436-019-0682-z","title":"Functional characterization of 84 PALB2 variants of uncertain significance","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; National Cancer Institute; National Institutes of Health; Fondation du cancer du sein du Québec; Mayo Clinic; Breast Cancer Research Foundation; Génome Québec","keywords":"PALB2; Missense mutation; DNA repair; DNA damage; Genetics; Cancer research; Biology; Mutation; Medicine; DNA; Germline mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002385546,0.0000871435,0.0001716066,0.00007597895,0.00000894777,0.000001122465,0.0001281509,0.00009432845,0.000242752],"category_scores_gemma":[0.00006537346,0.00008309192,0.00002355299,0.0001864954,0.0001180697,0.00000166322,0.00003789529,0.00005433838,0.00000445892],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002462669,"about_ca_system_score_gemma":0.0001486137,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001642979,"about_ca_topic_score_gemma":0.00001183105,"domain_scores_codex":[0.9991075,0.00004235575,0.0003305265,0.0002188309,0.0001895786,0.0001111804],"domain_scores_gemma":[0.999334,0.00001788153,0.0001638987,0.0003118211,0.0001473144,0.00002511167],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005920569,0.00003113954,0.0299853,0.00005302921,0.00002110251,3.483333e-7,0.0001062679,0.001374086,0.965984,0.0001005715,0.0002445506,0.002040393],"study_design_scores_gemma":[0.001305851,0.0004517859,0.4330837,0.00008749951,0.00001940298,0.000003671606,0.0001291758,0.0005879619,0.5593254,0.0002336983,0.004645409,0.0001264985],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924166,0.0004935225,0.005354248,0.0002112129,0.0004863168,0.000209741,0.00002477709,0.000002218689,0.0008013995],"genre_scores_gemma":[0.9975787,0.000415077,0.0009187628,0.0001364472,0.0001929461,0.00001395591,0.000234891,0.00001306901,0.0004961031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4066586,"threshold_uncertainty_score":0.338839,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01815935446563945,"score_gpt":0.2750150718676176,"score_spread":0.2568557174019782,"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."}}