{"id":"W3204258284","doi":"10.1038/s41525-021-00243-3","title":"Contribution of rare variant associations to neurodegenerative disease presentation","year":2021,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Occupational Cancer Research Centre; Centre for Addiction and Mental Health; Robarts Clinical Trials; McGill University; London Health Sciences Centre; Montreal Neurological Institute and Hospital; Queen's University; Thunder Bay Regional Research Institute; Ottawa Hospital; Bruyère; Baycrest Hospital; Lawson Health Research Institute; Toronto Western Hospital; NOSM University; Parkwood Institute; Public Health Ontario; University Health Network; University of Calgary; Health Sciences Centre; University of Ottawa; Mount Sinai Hospital; St Joseph's Health Care; Toronto Dementia Research Alliance; Western University; University of Toronto; Sinai Health System; St. Michael's Hospital; Sunnybrook Health Science Centre","funders":"Faculty of Health Sciences, Queen's University; Temerty Family Foundation; University of Toronto; National Institutes of Health; Queen's University; Ontario Brain Institute; Physicians' Services Incorporated Foundation; Heart and Stroke Foundation of Canada; Ontario Ministry of Health and Long-Term Care; TauRx Pharmaceuticals; London Health Sciences Foundation; Government of Ontario; Canadian Institutes of Health Research; F. Hoffmann-La Roche; Parkinson Canada; Weston Brain Institute; Biogen; Centre for Addiction and Mental Health Foundation; Ontario Ministry of Research and Innovation; Morris Kerzner Memorial Fund; McMaster University; Fondation Brain Canada; Alzheimer Society; BrightFocus Foundation; University of Ottawa","keywords":"Disease; Frontotemporal dementia; Amyotrophic lateral sclerosis; Neurodegeneration; Genome-wide association study; Genetic association; Dementia; Nonsynonymous substitution; Medicine; Biology; Genetics; Pathology; Gene; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.002489476,0.0005680787,0.0007377519,0.001891686,0.001003597,0.001235095,0.0006720712,0.0005777516,0.00250761],"category_scores_gemma":[0.008365813,0.0002729308,0.0008465702,0.001458201,0.0009391843,0.0003168641,0.001053951,0.0006422804,0.0002616013],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007403451,"about_ca_system_score_gemma":0.0008623723,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03861219,"about_ca_topic_score_gemma":0.06534459,"domain_scores_codex":[0.9955361,0.0008883682,0.0004718783,0.001895234,0.0007841111,0.0004244065],"domain_scores_gemma":[0.9957963,0.001904912,0.001074081,0.0006203903,0.0003209296,0.0002833077],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003396312,0.00002252054,0.9725208,0.00007669316,0.0009179491,0.00167711,0.0005012437,0.0004883534,0.009052518,0.0004386735,0.0003439559,0.01362061],"study_design_scores_gemma":[0.00002321918,0.00006954247,0.9913188,0.00004894884,0.0004540654,0.002895667,0.0002676647,0.001224582,0.00105467,0.001131798,0.00148585,0.00002518119],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991654,0.001765663,0.003331103,0.000262077,0.00004016867,0.00002770001,0.001277916,0.00006175814,0.001579479],"genre_scores_gemma":[0.9980711,0.0002365727,0.00084141,0.00006745053,0.00002342623,0.000008810578,0.0005122253,0.00001923976,0.0002197433],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03861219,"threshold_uncertainty_score":0.0767749,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03938658339945753,"score_gpt":0.3071102947212272,"score_spread":0.2677237113217696,"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."}}