{"id":"W4408301783","doi":"10.1002/mds.30150","title":"Copy Number Variation and Haplotype Analysis of <scp>17q21.31</scp> Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells","year":2025,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; University of Saskatchewan","funders":"National Institute of Neurological Disorders and Stroke; Medical Research Council; National Institute on Aging; King's College London; National Institutes of Health; Rainwater Charitable Foundation; University of Pennsylvania; CurePSP; Justus Liebig Universität Gießen; Universitat de Barcelona; Deutsches Zentrum für Neurodegenerative Erkrankungen; Larry L. Hillblom Foundation","keywords":"Copy-number variation; Progressive supranuclear palsy; Gene duplication; Haplotype; Segmental duplication; Biology; Genetics; Locus (genetics); Structural variation; Single-nucleotide polymorphism; Gene; Gene family; Genome; Genotype","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":[0.0001472946,0.000216107,0.0002002022,0.000923712,0.0001302061,0.0001918276,0.0001487553,0.0002156642,0.003083468],"category_scores_gemma":[0.0006547546,0.000105312,0.0002068938,0.0006992625,0.0001706958,0.0000724771,0.0001687758,0.0002024378,0.0002220483],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000132005,"about_ca_system_score_gemma":0.00007937809,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001165681,"about_ca_topic_score_gemma":0.00100423,"domain_scores_codex":[0.9998482,0.00002526775,0.0000138057,0.00005358358,0.00003815215,0.00002093043],"domain_scores_gemma":[0.9994079,0.0001885265,0.0002745164,0.00003673146,0.00003440822,0.00005798388],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001132436,0.00004975034,0.7636084,0.00007151379,0.0004562752,0.002375137,0.0002233086,0.0007043853,0.2157547,0.0001573666,0.0003104876,0.01515616],"study_design_scores_gemma":[0.00001739933,0.0001084522,0.9907627,0.000005366876,0.00006896955,0.002871176,0.0000385076,0.0007024084,0.005055903,0.0000971465,0.0002661589,0.000005732657],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993266,0.00009246454,0.00021755,0.000008781681,0.000001328345,0.000003651283,0.0002215893,0.000006379548,0.0001217973],"genre_scores_gemma":[0.9992601,0.00004518684,0.0001882825,0.000006368505,0.000003466672,0.000006772827,0.0003225297,0.000004372016,0.0001630117],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003083468,"threshold_uncertainty_score":0.01031524,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005656165274331739,"score_gpt":0.2350984624548178,"score_spread":0.229442297180486,"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."}}