{"id":"W2969625623","doi":"10.1101/738351","title":"Genetic modifiers of risk and age at onset in <i>GBA</i> associated Parkinson’s disease and Lewy body dementia","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Institute on Aging; Canada First Research Excellence Fund; Consortium canadien en neurodégénérescence associée au vieillissement; McGill University; Michael J. Fox Foundation for Parkinson's Research; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Glucocerebrosidase; Lewy body; Dementia; Parkinson's disease; Disease; Genetic association; LRRK2; Single-nucleotide polymorphism; Genetics; Genome-wide association study; Allele; Case-control study; Biology; Medicine; Gene; Internal medicine; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0009936406,0.0005424083,0.0004797365,0.001308874,0.0006478782,0.0007874026,0.0005043306,0.0009559423,0.002591689],"category_scores_gemma":[0.00268302,0.0003024721,0.0009231054,0.001272846,0.000445687,0.0003056915,0.0006219616,0.0007276786,0.0002943147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002679113,"about_ca_system_score_gemma":0.0001791702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006645062,"about_ca_topic_score_gemma":0.004805009,"domain_scores_codex":[0.999008,0.0002610033,0.0001125355,0.0003995772,0.0001187443,0.0001002157],"domain_scores_gemma":[0.9984825,0.0004066573,0.0006001382,0.0001460616,0.0001370793,0.000227559],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009092439,0.00007132019,0.9922077,0.00002718968,0.0004689474,0.0006512457,0.0001135393,0.0001190774,0.002947564,0.0001112293,0.000233845,0.002139127],"study_design_scores_gemma":[0.00003445888,0.000103526,0.9978914,0.00001240799,0.0001940951,0.0006854607,0.00005932745,0.0003225812,0.0002569572,0.0001028092,0.0003295066,0.00000748469],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978351,0.000554118,0.0003680192,0.00006589357,0.00002251268,0.00001145084,0.0005980624,0.00001243783,0.0005324195],"genre_scores_gemma":[0.9989667,0.0001122652,0.0002296798,0.00003586939,0.0000182472,0.000008622473,0.0004172183,0.000006226439,0.0002051498],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006645062,"threshold_uncertainty_score":0.01321274,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01291693602357335,"score_gpt":0.2353369224354256,"score_spread":0.2224199864118522,"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."}}