{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008183015,0.00009596326,0.0001227269,0.00004638559,0.000125147,0.00002819472,0.00005439975,0.00002546957,0.00005640224],"category_scores_gemma":[0.00008964194,0.00007066917,0.0001092244,0.0001290703,0.00001549079,0.00003754986,0.00001922578,0.00003485891,0.00002509254],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003355496,"about_ca_system_score_gemma":0.0002050515,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003839743,"about_ca_topic_score_gemma":0.00009437341,"domain_scores_codex":[0.9992828,0.00003677282,0.0001274568,0.0002195269,0.0001396911,0.0001936985],"domain_scores_gemma":[0.9995201,0.00006035973,0.00002861348,0.0002096281,0.0000826249,0.00009869798],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001684824,0.00593254,0.7330697,0.0008395509,0.0008249671,0.005995573,0.005346028,0.0003308253,0.09515911,0.005830011,0.0006010397,0.1443859],"study_design_scores_gemma":[0.001653464,0.00006869966,0.9236237,0.00002551617,0.0002371015,0.00001765617,0.0006967082,0.0002457717,0.0009361112,0.0008128943,0.07158435,0.00009795873],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943479,0.002442476,0.0002289933,0.001866979,0.0001296401,0.0004269093,0.0001950684,0.00002215634,0.0003399219],"genre_scores_gemma":[0.9958867,0.00009257237,0.001566092,0.001158601,0.0002114079,0.0002343874,0.0004980932,0.00001507524,0.0003370147],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1905541,"threshold_uncertainty_score":0.2881805,"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."}}