{"id":"W2986464424","doi":"10.1101/834754","title":"Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Fundação para a Ciência e a Tecnologia; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; European Regional Development Fund; Fundação de Amparo à Pesquisa do Estado de São Paulo","keywords":"Machado–Joseph disease; Genome-wide association study; Genetics; Biology; Genetic association; Disease; Gene; Genotype; Phenotype; Trinucleotide repeat expansion; Ataxia; Age of onset; Spinocerebellar ataxia; Single-nucleotide polymorphism; Medicine; Allele; Neuroscience; 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":[0.000670522,0.0003794075,0.0004701924,0.0009881246,0.0004464841,0.0005872997,0.0003516192,0.0007392949,0.002179349],"category_scores_gemma":[0.001488907,0.000205335,0.0006669126,0.001126814,0.0002731539,0.0002213714,0.0004012516,0.0006089337,0.0002159249],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001237075,"about_ca_system_score_gemma":0.0001371109,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002482829,"about_ca_topic_score_gemma":0.002127633,"domain_scores_codex":[0.9996217,0.0001122975,0.00004090336,0.000138321,0.0000463555,0.00004032451],"domain_scores_gemma":[0.9990888,0.0003288795,0.0002798208,0.00007863954,0.00006534822,0.0001585792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001139184,0.00009503027,0.9820485,0.00002683885,0.0007091391,0.0007752636,0.0001476101,0.0001527032,0.01125548,0.0001095368,0.0002922307,0.003248545],"study_design_scores_gemma":[0.00001737258,0.00006027665,0.9984519,0.000004372789,0.0001471745,0.0004012751,0.00005138129,0.0003151432,0.0003108212,0.0000711463,0.000164371,0.000004684951],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984704,0.0004527935,0.0003808864,0.00006659496,0.00001352131,0.000003773398,0.0002920693,0.00001356955,0.0003063298],"genre_scores_gemma":[0.9989874,0.0001279165,0.0003456761,0.0000283371,0.0000150917,0.000003771159,0.0002474607,0.00000861269,0.0002356569],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002482829,"threshold_uncertainty_score":0.007290661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0319388221885975,"score_gpt":0.2445604425819662,"score_spread":0.2126216203933687,"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."}}