{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001091809,0.00009829182,0.0002214325,0.00006929004,0.00009267919,0.000009997652,0.0001138492,0.00002764934,0.000390285],"category_scores_gemma":[0.006021595,0.00007924021,0.00005570625,0.000393245,0.00006031455,0.00005270262,0.00006659588,0.00007894827,0.0000267057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000257191,"about_ca_system_score_gemma":0.0001031604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001004799,"about_ca_topic_score_gemma":0.000002827798,"domain_scores_codex":[0.9986087,0.0002963867,0.0002801578,0.0003518568,0.0002807502,0.0001821221],"domain_scores_gemma":[0.9989578,0.0002595403,0.0001185487,0.0002250164,0.0001536321,0.0002855193],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0000772895,0.00009742581,0.0005713883,0.000006864776,0.000004775674,0.0001256281,0.0001501133,0.0003117584,0.9726357,0.02341739,0.001684258,0.0009174244],"study_design_scores_gemma":[0.002826064,0.0003303714,0.6575595,0.00003850058,0.0002625501,0.00001550657,0.00007891402,0.00132423,0.307485,0.006644599,0.0231603,0.0002744455],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9838177,0.0003595929,0.002713477,0.01062793,0.0006829586,0.0004118221,0.000326235,0.00003516448,0.001025153],"genre_scores_gemma":[0.9921756,0.0001236735,0.00004858823,0.006683176,0.0002822482,0.00002605811,0.00007690396,0.000008548465,0.0005751973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6651506,"threshold_uncertainty_score":0.7208846,"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."}}