{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004768699,0.0004197804,0.000518257,0.0004428674,0.0001863946,0.0001177881,0.0005640515,0.000187657,0.000026335],"category_scores_gemma":[0.001224278,0.0003684137,0.00007771744,0.0004296144,0.0002002197,0.0000885127,0.000594888,0.0003740183,0.0001495152],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002408266,"about_ca_system_score_gemma":0.00008542014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005052512,"about_ca_topic_score_gemma":0.006072285,"domain_scores_codex":[0.9962709,0.0005479761,0.0007293529,0.0009340779,0.0005163009,0.001001383],"domain_scores_gemma":[0.9977953,0.0009513657,0.0001134003,0.0008518256,0.00005227122,0.0002357832],"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":[0.000136293,0.0002094986,0.3029179,0.00009346106,0.000006592687,0.001002951,0.003113774,0.004571045,0.6827682,0.0001313435,0.00006374132,0.004985195],"study_design_scores_gemma":[0.0028548,0.0009071653,0.5666711,0.000347689,0.00001638598,0.0002591144,0.00007951794,0.001794502,0.4243531,0.0004671682,0.001429259,0.000820156],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976119,0.00006739216,0.0002461236,0.0001092338,0.0004546383,0.0009977357,0.0000169982,0.0001301264,0.0003657929],"genre_scores_gemma":[0.9980713,0.00007462404,0.0007380686,0.0003203285,0.000258274,0.00006636825,0.000001670599,0.000101522,0.0003678459],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2637532,"threshold_uncertainty_score":0.9998768,"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."}}