{"id":"W4396578590","doi":"10.1016/j.neuron.2024.04.002","title":"Genome sequence analyses identify novel risk loci for multiple system atrophy","year":2024,"lang":"en","type":"article","venue":"Neuron","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Common Fund; National Institute of Neurological Disorders and Stroke; NIH Office of the Director; National Heart, Lung, and Blood Institute; National Human Genome Research Institute; Institut de Recherches Servier; Brigham Research Institute; Arizona Biomedical Research Commission; Austrian Science Fund; H. Lundbeck A/S; Alzheimer’s Research UK; Brigham and Women's Hospital; Parkinson's UK; Multiple System Atrophy Coalition; Theravance Biopharma US; Wellcome Trust; National Institutes of Health; Regeneron Pharmaceuticals; National Cancer Institute; Servier; CurePSP; Johns Hopkins University; Michael J. Fox Foundation for Parkinson's Research; Universität Innsbruck; Arizona Department of Health Services; Parkinson's Foundation; Demensförbundet; Biogen; Northwestern University; National Institute on Aging; National Institute for Health and Care Research; Medical Research Council; Teva Pharmaceutical Industries; Louisiana Transportation Research Center; Mayo Clinic; Medizinische Universität Innsbruck; AbbVie; Alzheimer Society; Eli Lilly and Company; National Institute of Mental Health; Takeda Pharmaceuticals U.S.A.; Sanofi","keywords":"Sequence (biology); Genome; Genetics; Biology; Computational biology; Atrophy; Gene; Evolutionary biology; Neuroscience","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006125039,0.00015996,0.0002174412,0.0001101654,0.00009039683,0.0000576498,0.00006877366,0.00005049056,0.00002084141],"category_scores_gemma":[0.00004665292,0.0001281694,0.0002162622,0.0001586091,0.00001880965,0.00007300504,0.00002624735,0.00009551657,0.0001682384],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001327307,"about_ca_system_score_gemma":0.00005825818,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009264611,"about_ca_topic_score_gemma":0.00000444837,"domain_scores_codex":[0.9989648,0.00001917027,0.0001708065,0.0004198516,0.0002005086,0.00022484],"domain_scores_gemma":[0.9994208,0.00006747647,0.00004802258,0.0002695614,0.00004752794,0.0001465928],"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":[0.000318531,0.0003457002,0.005033145,0.001602158,0.0006792754,0.001126284,0.0001537492,0.0001619166,0.984726,0.0003472984,0.0002815208,0.005224474],"study_design_scores_gemma":[0.01091352,0.002837458,0.4532892,0.0009346044,0.007957832,0.0005155554,0.000302128,0.1204478,0.08065038,0.0002601805,0.320897,0.0009943413],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9847188,0.001576729,0.01098773,0.00009418522,0.0006884414,0.0006686083,0.0007650084,0.0002868442,0.0002136663],"genre_scores_gemma":[0.9978474,0.00006422088,0.0009231173,0.00008265577,0.0002143333,0.0000967102,0.0001360954,0.00004246746,0.000592948],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9040756,"threshold_uncertainty_score":0.5226597,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08136062688287157,"score_gpt":0.3571137145786897,"score_spread":0.2757530876958182,"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."}}