{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008580112,0.0000886129,0.0002581474,0.0003520006,0.00005537209,0.00003400593,0.00007270534,0.00004688086,0.00009184787],"category_scores_gemma":[0.00009263845,0.0000724638,0.00002836552,0.0004629928,0.00005655076,0.0001418943,0.0001083376,0.0003529273,0.00007099108],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002410446,"about_ca_system_score_gemma":0.0001841021,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003036295,"about_ca_topic_score_gemma":0.0006022521,"domain_scores_codex":[0.9983714,0.0000936526,0.0002313468,0.0002827304,0.0006972073,0.0003236934],"domain_scores_gemma":[0.9992943,0.00006999566,0.00002501281,0.0002898121,0.0002378536,0.00008296549],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002056609,0.000234403,0.9855223,0.0001179474,0.00003394445,0.00005018061,0.0007895908,0.00002724383,0.01216637,0.00001254862,0.00000539419,0.0008344215],"study_design_scores_gemma":[0.001568998,0.001315573,0.9935637,0.0001959351,0.000009549896,0.00001245221,0.000708701,0.0009931515,0.001544352,0.000005008005,0.000007576395,0.00007506181],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970824,0.00004785502,0.00000128866,0.00003492639,0.00003640326,0.001301305,0.00000118613,0.0000150572,0.001479584],"genre_scores_gemma":[0.9989234,0.000004371376,0.00006818546,0.000008568112,0.00003262571,0.00002451059,0.000009405799,0.00002034533,0.0009086225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01062202,"threshold_uncertainty_score":0.458999,"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."}}