{"id":"W3138070313","doi":"10.3390/genes12030430","title":"Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era","year":2021,"lang":"en","type":"article","venue":"Genes","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Health and Medical Research Council","keywords":"Genetics; Missense mutation; Disease; LRRK2; Exome sequencing; Family history; Exome; Biology; Genetic testing; Mutation; Multiplex; Medicine; Gene; Internal medicine","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":[0.0002722776,0.0002363284,0.0002287661,0.0003863541,0.0003672717,0.0004420836,0.0001649435,0.0003908456,0.002640267],"category_scores_gemma":[0.0003146863,0.00005707623,0.0001592359,0.0003351024,0.0003086369,0.0002673436,0.0002340885,0.0002434711,0.0004277517],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002882264,"about_ca_system_score_gemma":0.0001895742,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007186513,"about_ca_topic_score_gemma":0.002134327,"domain_scores_codex":[0.9999254,0.00001853795,0.000005704771,0.00001534348,0.00001963063,0.00001539073],"domain_scores_gemma":[0.9998989,0.00001852355,0.00003132889,0.0000111075,0.00001808913,0.00002202157],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0018559,0.0007062242,0.3267891,0.0006687315,0.0003399692,0.04647288,0.001439121,0.0004261143,0.1277163,0.004746358,0.01148847,0.4773509],"study_design_scores_gemma":[0.0001340837,0.001532182,0.8082327,0.0003261367,0.0002850059,0.06902748,0.0005885203,0.0004537898,0.02199533,0.004449279,0.09294605,0.00002949581],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9442219,0.03251315,0.001301245,0.002258129,0.000191201,0.00005194168,0.0003660874,0.00009758794,0.01899863],"genre_scores_gemma":[0.9815052,0.01104134,0.001079794,0.0006782339,0.0001458599,0.00002257933,0.0003168382,0.00001212026,0.005197891],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002640267,"threshold_uncertainty_score":0.008832633,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02281655274247317,"score_gpt":0.2795601799724308,"score_spread":0.2567436272299576,"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."}}