{"id":"W3206271349","doi":"10.1016/j.parkreldis.2021.10.001","title":"The commercial genetic testing landscape for Parkinson's disease","year":2021,"lang":"en","type":"article","venue":"Parkinsonism & Related Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; McGill University; Montreal Neurological Institute and Hospital; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute","keywords":"Genetic testing; Parkinsonism; LRRK2; Parkinson's disease; Medicine; Gene; Disease; Genetics; Genetic heterogeneity; Bioinformatics; Biology; Pathology; Phenotype","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000223106,0.0003959773,0.0003958782,0.00008073458,0.001057729,0.0001323718,0.0001945926,0.0001659833,0.000111953],"category_scores_gemma":[0.0009111996,0.0003098898,0.0003900861,0.0004868656,0.0001397844,0.00007435276,0.00009184922,0.000277967,0.00009909016],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007933566,"about_ca_system_score_gemma":0.0005301604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002865118,"about_ca_topic_score_gemma":0.00005987445,"domain_scores_codex":[0.9974685,0.0001342913,0.0004679556,0.0007255176,0.0004247256,0.0007789993],"domain_scores_gemma":[0.9976287,0.000703985,0.0001760491,0.0006889453,0.0002131923,0.0005891328],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001196793,0.00135326,0.1084237,0.0001661941,0.001043503,0.0005210467,0.000267001,0.0002829434,0.0002591988,0.001131391,0.004830116,0.8805248],"study_design_scores_gemma":[0.004927171,0.0001943519,0.1481093,0.00008918376,0.0007669892,0.00003435688,0.000179584,0.00554408,0.0001147224,0.006733349,0.8329635,0.00034345],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.914837,0.05353511,0.002179771,0.01104356,0.001777667,0.002787583,0.0002504759,0.0006167101,0.01297213],"genre_scores_gemma":[0.9913121,0.002700229,0.002830318,0.0007552955,0.0001504754,0.0004634949,0.0002139147,0.0001063013,0.001467856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8801814,"threshold_uncertainty_score":0.9999353,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0153141840229781,"score_gpt":0.2555990412594393,"score_spread":0.2402848572364612,"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."}}