{"id":"W2551997399","doi":"10.1007/s00439-016-1746-7","title":"A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect","year":2016,"lang":"en","type":"article","venue":"Human Genetics","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Education and Early Childhood Development; Western University; Government of Newfoundland and Labrador; Memorial University of Newfoundland","funders":"Canadian Institutes of Health Research; Research and Development Corporation of Newfoundland and Labrador; Genome Canada","keywords":"Sanger sequencing; Biology; Proband; Genetics; Founder effect; Exome sequencing; Haplotype; Hearing loss; Population; Sensorineural hearing loss; Compound heterozygosity; Allele; Mutation; Audiology; Gene; Medicine","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":[0.0001945243,0.001197189,0.0004872328,0.001565285,0.0008071712,0.0003284462,0.0005328196,0.0005194583,0.002654659],"category_scores_gemma":[0.0007772219,0.0002567579,0.0003903794,0.000634458,0.0005351815,0.000147755,0.0005100153,0.0004183147,0.0003804617],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007146465,"about_ca_system_score_gemma":0.0004090813,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008351947,"about_ca_topic_score_gemma":0.02000646,"domain_scores_codex":[0.9995931,0.00002483906,0.00003803265,0.0002017951,0.00008642081,0.00005587116],"domain_scores_gemma":[0.9996246,0.00007132482,0.000138604,0.00003609995,0.00003425569,0.00009516821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009348028,0.0002450673,0.4863519,0.0001404812,0.000360647,0.2223002,0.001185992,0.0004297793,0.2543607,0.0005043183,0.001367144,0.03181887],"study_design_scores_gemma":[0.00009535113,0.00028212,0.7344103,0.00005312386,0.0002667398,0.2419068,0.000429986,0.0009240009,0.01772999,0.0002201358,0.003641297,0.00004012953],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984112,0.000192024,0.0005171393,0.00004682547,0.00001088886,0.00001777766,0.000207152,0.0000530511,0.0005440895],"genre_scores_gemma":[0.9983115,0.00009567378,0.0005392997,0.00004345473,0.00001478084,0.000008200048,0.0002089889,0.00001362656,0.0007644513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008351947,"threshold_uncertainty_score":0.01660669,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06445936769139261,"score_gpt":0.3183626157866817,"score_spread":0.2539032480952891,"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."}}