{"id":"W4415743223","doi":"10.1038/s42003-025-08778-2","title":"Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes","year":2025,"lang":"en","type":"article","venue":"Communications Biology","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Research Institute in Oncology and Hematology; Children's Hospital Research Institute of Manitoba; CancerCare Manitoba; Research Manitoba; Children's Hospital of Winnipeg; University of Manitoba","funders":"National Center for Advancing Translational Sciences; National Institute on Deafness and Other Communication Disorders; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Government of Canada; National Institutes of Health; National Center for Research Resources; South Carolina Clinical and Translational Research Institute, Medical University of South Carolina; University of South Carolina; Research Manitoba","keywords":"Hearing loss; Phenotype; Sensory system; Population; Frontotemporal dementia; Gene; Sensory loss; Genetic heterogeneity","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003827021,0.0002834496,0.000313467,0.0006864282,0.0001968236,0.0004929329,0.0002512864,0.0002167655,0.0009167246],"category_scores_gemma":[0.000946759,0.0001101401,0.0003886503,0.0004445128,0.0002278827,0.0001691098,0.0007183183,0.0003191695,0.0001786394],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001343281,"about_ca_system_score_gemma":0.000233651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002066558,"about_ca_topic_score_gemma":0.004180707,"domain_scores_codex":[0.9998366,0.00003733202,0.00001022737,0.00005915332,0.00003508939,0.00002160035],"domain_scores_gemma":[0.9995174,0.0002278559,0.000120482,0.00005865032,0.00002860474,0.00004704557],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001071649,0.0001841157,0.5841009,0.0001649919,0.0005255328,0.0007580183,0.0004028297,0.008038513,0.3215648,0.000784535,0.0009616093,0.08144252],"study_design_scores_gemma":[0.00001971917,0.00006842222,0.9774336,0.00001464715,0.0001194811,0.0003955496,0.0001714857,0.01304488,0.006579467,0.001474669,0.000661751,0.00001633343],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912561,0.0001961252,0.007038841,0.00008995138,0.00000395264,0.00001434879,0.0009588333,0.00007546941,0.0003664114],"genre_scores_gemma":[0.9932429,0.0001833536,0.004915385,0.00005753329,0.000004888953,0.00002504337,0.001318655,0.00002497425,0.0002271589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002066558,"threshold_uncertainty_score":0.004109025,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08514185509568627,"score_gpt":0.3327582925554352,"score_spread":0.2476164374597489,"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."}}