{"id":"W2960177838","doi":"10.1016/j.heares.2019.07.006","title":"Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss","year":2019,"lang":"en","type":"article","venue":"Hearing Research","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Ministry of Health, British Columbia","keywords":"Alport syndrome; Hearing loss; Usher syndrome; Genetics; Allele; SNP array; Biology; SNP; Medicine; Gene; Audiology; Single-nucleotide polymorphism; Genotype; Glomerulonephritis; Retinitis pigmentosa","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005404003,0.0006591848,0.0003548118,0.001127284,0.0011721,0.0007901807,0.0003370635,0.0006924703,0.002148194],"category_scores_gemma":[0.001940104,0.0003309497,0.0005754805,0.000895803,0.0003894564,0.0002279883,0.000516015,0.000459427,0.0004156041],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004976533,"about_ca_system_score_gemma":0.0005076736,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01244666,"about_ca_topic_score_gemma":0.01173271,"domain_scores_codex":[0.9995388,0.00009800916,0.00003791195,0.0001735304,0.00005694091,0.00009488582],"domain_scores_gemma":[0.9995177,0.0001473625,0.0001109356,0.00006621103,0.00007182699,0.00008592844],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005951611,0.0001512139,0.976901,0.0000378711,0.0002323537,0.00618079,0.001403809,0.0001974085,0.006665892,0.000250072,0.001729878,0.0056546],"study_design_scores_gemma":[0.00006578847,0.0001941843,0.9885116,0.00003959273,0.0001839882,0.006541159,0.000595129,0.000416849,0.000334975,0.0001416519,0.002957962,0.00001720708],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978601,0.0002046687,0.0001830173,0.0001382051,0.00001326404,0.00001401997,0.0007117601,0.00000678665,0.0008680705],"genre_scores_gemma":[0.9970757,0.0002118046,0.0003262787,0.0002225685,0.00003092085,0.00003544795,0.001301089,0.00001516279,0.0007810976],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01244666,"threshold_uncertainty_score":0.02474844,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1598630199897031,"score_gpt":0.3628609833816404,"score_spread":0.2029979633919373,"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."}}