{"id":"W4200425980","doi":"10.1016/j.neurobiolaging.2021.12.004","title":"Genomic study of a large family with complex neurological phenotype including hearing loss, imbalance and action tremor","year":2021,"lang":"en","type":"article","venue":"Neurobiology of Aging","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Brain Institute; Toronto General Hospital; University of Toronto; University of British Columbia Hospital; Toronto Western Hospital","funders":"H. Lundbeck A/S; National Natural Science Foundation of China; Consortium canadien en neurodégénérescence associée au vieillissement; Acorda Therapeutics; Sunovion; Fundamental Research Funds for the Central Universities; Sun Pharma; Biogen; Eli Lilly and Company","keywords":"Hearing loss; Genetics; Allele; Phenotype; Locus (genetics); Population; Sensorineural hearing loss; Medicine; Genetic heterogeneity; Audiology; Biology; Gene","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":[0.0002201076,0.001082968,0.0004235235,0.001639793,0.002024797,0.0004106565,0.0005593864,0.0006087066,0.001768919],"category_scores_gemma":[0.001197028,0.0003240788,0.0004878095,0.001620332,0.0005937942,0.0001474253,0.0007238838,0.000496148,0.0002312677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001462296,"about_ca_system_score_gemma":0.001494846,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.117953,"about_ca_topic_score_gemma":0.1240576,"domain_scores_codex":[0.9996033,0.0000397103,0.00002642607,0.0001375967,0.0001268843,0.00006600046],"domain_scores_gemma":[0.9996185,0.00009837397,0.00004560292,0.00002555183,0.00005754686,0.0001543504],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009086273,0.0005095858,0.4159621,0.0002167339,0.000457651,0.4003466,0.005946517,0.001138897,0.1417647,0.0008692395,0.001896208,0.02998319],"study_design_scores_gemma":[0.00007740575,0.0003638369,0.7935134,0.0000361265,0.0003077815,0.1908444,0.001725096,0.001107805,0.006612434,0.0001811366,0.005170703,0.00005989775],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975024,0.0001988522,0.0005220554,0.0001290325,0.000008987714,0.00004206598,0.0005391515,0.00001916357,0.001038376],"genre_scores_gemma":[0.9968047,0.0003440977,0.001173765,0.000106379,0.0000169549,0.00001511535,0.0008193046,0.00001277624,0.0007067446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.117953,"threshold_uncertainty_score":0.2345329,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03537913838122984,"score_gpt":0.2762345499976415,"score_spread":0.2408554116164117,"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."}}