{"id":"W2903799300","doi":"10.1093/jnci/djy171","title":"Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide","year":2018,"lang":"en","type":"review","venue":"JNCI Journal of the National Cancer Institute","topic":"Cutaneous Melanoma Detection and Management","field":"Medicine","cited_by":241,"is_retracted":false,"has_abstract":true,"ca_institutions":"Impact","funders":"National Center for Research Resources; Cancer Research UK; National Institutes of Health; National Cancer Institute; National Eye Institute; Wellcome Trust","keywords":"Germline; BAP1; Phenotype; Genetics; Biology; Computational biology; Germline mutation; Mutation; 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":[0.0005495528,0.0004207198,0.0004259319,0.002290028,0.0005070964,0.0003739817,0.0002791526,0.0002538,0.0022777],"category_scores_gemma":[0.001532635,0.000205973,0.000266377,0.002273769,0.0002805296,0.0003287334,0.0005071273,0.0001848734,0.0003429482],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002857505,"about_ca_system_score_gemma":0.0002773439,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004613919,"about_ca_topic_score_gemma":0.002965936,"domain_scores_codex":[0.9993446,0.0001158192,0.0000823438,0.0002985934,0.00009109041,0.00006743497],"domain_scores_gemma":[0.9991111,0.0003138119,0.0002477556,0.0000900545,0.0001121481,0.0001251021],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001117861,0.00003582964,0.981088,0.00004430501,0.0001517861,0.003043997,0.0005580169,0.0001581255,0.00415828,0.00004532925,0.0004615946,0.01014293],"study_design_scores_gemma":[0.000005863009,0.00006248368,0.9921128,0.00001559008,0.00004683008,0.00609851,0.0002581569,0.00006525697,0.0003587585,0.0000260514,0.0009440577,0.000005635595],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9974474,0.0003380114,0.0003081615,0.00001657546,0.000002180194,0.00001081093,0.001305705,0.00001468574,0.0005565346],"genre_scores_gemma":[0.9957566,0.0005555399,0.0003672142,0.00002533488,0.000008181683,0.00002200249,0.003039686,0.0000138203,0.0002116921],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.004613919,"threshold_uncertainty_score":0.009174109,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1956685204276877,"score_gpt":0.4425827557212437,"score_spread":0.246914235293556,"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."}}