{"id":"W4220715019","doi":"10.1007/s00439-022-02444-x","title":"Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene","year":2022,"lang":"en","type":"article","venue":"Human Genetics","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Hospital for Sick Children; SickKids Foundation; Western University; Memorial University of Newfoundland","funders":"Institute of Genetics; National Institute on Deafness and Other Communication Disorders; Children's Hospital Foundation; National Institutes of Health; Tel Aviv University; Deutsche Forschungsgemeinschaft; Genome Canada","keywords":"Biology; Genetics; Frameshift mutation; Exon; Gene duplication; Tandem exon duplication; 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":[0.00008051445,0.0007450376,0.0002673898,0.000722154,0.0004858435,0.0002287427,0.0002575856,0.0002791151,0.006695997],"category_scores_gemma":[0.0002327716,0.0001661859,0.0003290128,0.0005175408,0.0003787439,0.00009638389,0.0003227247,0.0003229041,0.0004733444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005426888,"about_ca_system_score_gemma":0.0004222148,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01801411,"about_ca_topic_score_gemma":0.04568969,"domain_scores_codex":[0.9998783,0.000009484073,0.000009473442,0.00004910159,0.0000299763,0.00002375918],"domain_scores_gemma":[0.9999019,0.00001774782,0.00004466986,0.000004421397,0.00001198962,0.00001920221],"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":[0.0007672733,0.0001762196,0.3397238,0.0003442458,0.0004911211,0.06526587,0.001015433,0.0007061455,0.4980279,0.001483652,0.004391536,0.08760671],"study_design_scores_gemma":[0.0001027538,0.0002016259,0.876095,0.00009972641,0.0002474005,0.09255058,0.0003716818,0.0008989187,0.01874043,0.0004521125,0.01021437,0.00002531246],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944822,0.0005190225,0.001703704,0.0001802798,0.00001304417,0.00004040627,0.001311511,0.0000817382,0.00166819],"genre_scores_gemma":[0.995694,0.0002384037,0.001044673,0.00005416742,0.000006663357,0.00002089948,0.0008558948,0.0000100243,0.002075234],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01801411,"threshold_uncertainty_score":0.03581852,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01063127301119866,"score_gpt":0.2392783166085702,"score_spread":0.2286470435973715,"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."}}