{"id":"W4411464073","doi":"10.1002/acn3.70100","title":"Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing","year":2025,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"Dystonia Coalition; National Institutes of Health; Universiti Malaya; National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Deutsche Forschungsgemeinschaft","keywords":"Exome sequencing; Medicine; Phenotype; Dystonia; Computational biology; Evolutionary biology; Diversity (politics); Exome; Genetic diversity; Genetics; Bioinformatics; Gene; Biology; Psychiatry; Population","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":[0.0006286654,0.0003450605,0.0003958747,0.001249776,0.0002260935,0.0005896571,0.0002907044,0.0004696652,0.00214402],"category_scores_gemma":[0.001433525,0.0001410608,0.0003278649,0.00111914,0.0003126906,0.0003176502,0.0007065113,0.0003550564,0.000267505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001666534,"about_ca_system_score_gemma":0.0001206308,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004827344,"about_ca_topic_score_gemma":0.001048079,"domain_scores_codex":[0.9997284,0.00006176228,0.00003175631,0.0001091376,0.0000397961,0.00002914068],"domain_scores_gemma":[0.999316,0.0003237629,0.0002024843,0.00006607897,0.00003370104,0.0000579013],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00103935,0.0001135621,0.8130622,0.0005378611,0.001147133,0.008566233,0.0008805217,0.004242736,0.1192553,0.000895386,0.001703941,0.04855572],"study_design_scores_gemma":[0.00003474562,0.00007287853,0.9878379,0.0000633341,0.0001854378,0.005361388,0.0001355276,0.001755582,0.001709912,0.0008546867,0.001971684,0.00001689717],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941293,0.001317591,0.001887855,0.0001467313,0.000006306423,0.00001470204,0.001760202,0.00002099228,0.0007164053],"genre_scores_gemma":[0.995575,0.0006760695,0.0014155,0.00008337686,0.00002014,0.00001563315,0.001990048,0.00001358776,0.0002106302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00214402,"threshold_uncertainty_score":0.007172406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09573432832347435,"score_gpt":0.3643643820563763,"score_spread":0.268630053732902,"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."}}