{"id":"W2782297377","doi":"10.1093/brain/awx285","title":"Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease","year":2017,"lang":"en","type":"article","venue":"Brain","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":451,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Institute on Aging; National Institutes of Health; National Cancer Institute; Servier; Medical Research Council; Hersenstichting; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Genentech; Erasmus Medisch Centrum; Avid Radiopharmaceuticals; Bundesministerium für Bildung und Forschung; ZonMw; Parkinson's UK; Pfizer; Biogen; Huffington Foundation; National Center for Research Resources; Agence Nationale de la Recherche; Wellcome Trust; U.S. Department of Defense; Eli Lilly and Company; Itä-Suomen Yliopisto; Texas Children's Hospital; Institute of Genetics; ACMG Foundation for Genetic and Genomic Medicine; Wellcome; American Parkinson Disease Association; Bristol-Myers Squibb; European Commission; Helsingin Yliopisto; National Institute of General Medical Sciences; H. Lundbeck A/S; Prinses Beatrix Spierfonds; Burroughs Wellcome Fund; American Academy of Neurology; Michael J. Fox Foundation for Parkinson's Research; U.S. Department of Health and Human Services; Helsingin ja Uudenmaan Sairaanhoitopiiri; GlaxoSmithKline; EU Joint Programme – Neurodegenerative Disease Research","keywords":"Glucocerebrosidase; Exome sequencing; Disease; Biology; Genetics; Parkinson's disease; Candidate gene; Lysosomal storage disease; LRRK2; Exome; Gene; Bioinformatics; Medicine; Mutation; Pathology","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":[0.0007586697,0.000311871,0.0005381961,0.0007270575,0.0004031745,0.0005762961,0.000240154,0.0003872256,0.001576584],"category_scores_gemma":[0.002459488,0.0002694036,0.0003801963,0.0007431896,0.0003535924,0.0002718027,0.0006157696,0.0003675123,0.0001378404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001705965,"about_ca_system_score_gemma":0.0001354061,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001655121,"about_ca_topic_score_gemma":0.001929586,"domain_scores_codex":[0.9994192,0.0001288896,0.00007309375,0.0002459528,0.0000935207,0.00003927268],"domain_scores_gemma":[0.9990008,0.000319768,0.0003329799,0.0001717737,0.00006519837,0.000109466],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009183611,0.00004600958,0.9614496,0.00004996541,0.0005650577,0.001366479,0.0002622739,0.0004481176,0.02726608,0.0001779117,0.0001989202,0.00725123],"study_design_scores_gemma":[0.00002209144,0.0001033608,0.9954948,0.000006375325,0.0001598506,0.001891891,0.00006037352,0.0005761151,0.001145891,0.0002754374,0.0002561661,0.000007543758],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991648,0.000186598,0.0003159525,0.00002594456,0.000002766556,0.000002463197,0.0001436189,0.00000583671,0.0001520966],"genre_scores_gemma":[0.9995582,0.00005452001,0.0001784978,0.000008853164,0.000003917034,0.000001590253,0.0001215259,0.000002867333,0.00007002031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001655121,"threshold_uncertainty_score":0.005274177,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02390754059666908,"score_gpt":0.3146035693480085,"score_spread":0.2906960287513394,"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."}}