{"id":"W2761934863","doi":"10.1093/hmg/ddx368","title":"Rare germline variants in known melanoma susceptibility genes in familial melanoma","year":2017,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Melanoma and MAPK Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Cancer Institute; National Institutes of Health; Division of Cancer Epidemiology and Genetics, National Cancer Institute; McMaster University","keywords":"Biology; Genetics; Nonsynonymous substitution; Missense mutation; Germline; Germline mutation; Exome sequencing; Population; Exome; Gene; Melanoma; Mutation; Genome; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0003123882,0.0002625598,0.0003234877,0.001153529,0.0003851586,0.0003236669,0.0002110536,0.0003031364,0.001623915],"category_scores_gemma":[0.001646166,0.0001295432,0.0002734483,0.0009220949,0.0002626872,0.0001606441,0.0002409333,0.000252442,0.0001519207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000119644,"about_ca_system_score_gemma":0.00009740802,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001035879,"about_ca_topic_score_gemma":0.001533818,"domain_scores_codex":[0.9995824,0.00007136269,0.00005119369,0.0001778552,0.00007807162,0.00003909126],"domain_scores_gemma":[0.9992031,0.0002958838,0.000316637,0.00006824442,0.00005608459,0.00006006924],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001677075,0.00002352818,0.9795094,0.00003031332,0.000116354,0.001894522,0.0001937151,0.0001196629,0.01267016,0.000062568,0.00008209574,0.005129922],"study_design_scores_gemma":[0.000007627802,0.00005711542,0.9921477,0.000008524976,0.00006676202,0.005464525,0.0001012913,0.0002780112,0.001410834,0.0001067874,0.0003465879,0.000004306508],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991373,0.0002948464,0.0002786576,0.000009397429,0.000002264232,0.000003192309,0.0001177008,0.000007095866,0.0001495308],"genre_scores_gemma":[0.999519,0.00007495194,0.0001920232,0.000009696408,0.000004334426,0.000002797037,0.0001370697,0.000002739686,0.00005748595],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001623915,"threshold_uncertainty_score":0.005432606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0205141760911975,"score_gpt":0.2763576507096835,"score_spread":0.2558434746184861,"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."}}