{"id":"W3161545725","doi":"10.1038/s41436-021-01151-8","title":"Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Cancer Research UK","keywords":"PALB2; Breast cancer; Medicine; Genetic testing; Cancer; Germline mutation; Genetics; Internal medicine; Biology; Mutation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001579993,0.000133801,0.0004308753,0.00007300888,0.0000157161,0.000001652349,0.0003802841,0.0001347656,0.00001395379],"category_scores_gemma":[0.0006820441,0.000103297,0.00003604409,0.0005435115,0.0009871895,0.000001516547,0.0004432628,0.000200177,9.519032e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002689035,"about_ca_system_score_gemma":0.0004270127,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002564659,"about_ca_topic_score_gemma":0.0001981479,"domain_scores_codex":[0.997659,0.0003263557,0.0008958344,0.0003501651,0.0005948871,0.000173799],"domain_scores_gemma":[0.9983689,0.0002207204,0.0005102433,0.000643474,0.0001868346,0.00006985505],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001375186,0.001999501,0.8101234,0.001108893,0.0017452,0.000484733,0.002360913,0.00575551,0.07603434,0.001970387,0.003153311,0.09388862],"study_design_scores_gemma":[0.009505832,0.002109094,0.8163307,0.001163,0.0005339158,0.0002163758,0.01188202,0.001114912,0.08932172,0.0004420264,0.06696276,0.0004176148],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892303,0.006498001,0.0005977716,0.002756867,0.00008587945,0.0002703939,0.00006411041,0.000001171991,0.0004955572],"genre_scores_gemma":[0.9525366,0.01382538,0.03287021,0.0005651603,0.0001020927,0.00001188595,0.00002168113,0.00002133517,0.00004563382],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.093471,"threshold_uncertainty_score":0.4212328,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02059915923198713,"score_gpt":0.3572916767064365,"score_spread":0.3366925174744494,"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."}}