{"id":"W2114807557","doi":"10.1371/journal.pone.0100146","title":"Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families","year":2014,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"Higher Education Commision, Pakistan; Oticon Fonden","keywords":"Genetics; Frameshift mutation; Missense mutation; Biology; Nonsense mutation; Mutation; Disease gene identification; Hearing loss; Gene; Medicine; Exome sequencing","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001911205,0.0006963106,0.0002844141,0.001175823,0.0007242641,0.0003065293,0.0002474031,0.0002961544,0.004135356],"category_scores_gemma":[0.0006743415,0.0002169595,0.0001838634,0.0005914819,0.0004800038,0.0001732888,0.0004517367,0.000166035,0.0003606507],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002352508,"about_ca_system_score_gemma":0.0002764938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003502808,"about_ca_topic_score_gemma":0.002846399,"domain_scores_codex":[0.9997702,0.00003376994,0.00002537592,0.00006413514,0.00005733394,0.00004912644],"domain_scores_gemma":[0.9997743,0.00006011045,0.00007709787,0.00001016667,0.00003060083,0.00004774391],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006703482,0.0001914561,0.8452314,0.0001039478,0.0001130874,0.1021891,0.001958052,0.0002800585,0.02770149,0.0005267822,0.001144647,0.0198897],"study_design_scores_gemma":[0.00004923908,0.0003127286,0.8765169,0.00005326355,0.00007193656,0.1173163,0.001371975,0.0003118227,0.002110519,0.0003586706,0.001503534,0.00002322024],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983551,0.0001451692,0.0001305893,0.00003810637,0.000003239745,0.00001160628,0.0001564766,0.00001019706,0.001149607],"genre_scores_gemma":[0.9993849,0.0001473636,0.0001198959,0.0000245485,0.000004540674,0.000006020287,0.0001041405,0.00000225809,0.0002063031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004135356,"threshold_uncertainty_score":0.01383418,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04255825579415688,"score_gpt":0.2506741976318,"score_spread":0.2081159418376431,"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."}}