{"id":"W2029098833","doi":"10.1038/ejhg.2013.5","title":"Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL","year":2013,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; Memorial University of Newfoundland","funders":"Canadian Institutes of Health Research; Children's Hospital Foundation; Genome Canada","keywords":"Genetics; Genetic heterogeneity; Allelic heterogeneity; Phenocopy; Locus (genetics); Biology; Multiplex; Genetic linkage; Allele; Population; Locus heterogeneity; Hearing loss; Gene; Phenotype; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003354961,0.00253124,0.0007016942,0.002877992,0.00150863,0.000657154,0.001725319,0.002273431,0.004873771],"category_scores_gemma":[0.001955317,0.0004757572,0.0008788811,0.001093012,0.002099486,0.0005268845,0.001181459,0.0008242925,0.000686335],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007582086,"about_ca_system_score_gemma":0.0009720164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00381966,"about_ca_topic_score_gemma":0.003500523,"domain_scores_codex":[0.9993761,0.00006952087,0.00009895724,0.0002219321,0.0001251721,0.0001083012],"domain_scores_gemma":[0.9986482,0.0005296392,0.0002637332,0.0000715932,0.0001063814,0.0003804893],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000416795,0.0001162313,0.02622453,0.00009635343,0.00008557438,0.8545508,0.0006515305,0.000306164,0.1136012,0.0005671759,0.0002847337,0.003098807],"study_design_scores_gemma":[0.0001210414,0.0003024865,0.0547148,0.00002898938,0.0001971812,0.9135537,0.0005719647,0.0008429504,0.02679868,0.0004465314,0.002354559,0.00006715461],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951015,0.0002716501,0.00142003,0.0004458085,0.00007629597,0.00004553169,0.0005360643,0.00006241907,0.002040698],"genre_scores_gemma":[0.9978209,0.0001075903,0.001078236,0.00008303444,0.00004554961,0.0000209009,0.0001818967,0.00001956389,0.0006423813],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004873771,"threshold_uncertainty_score":0.01630443,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08215799782694451,"score_gpt":0.3017958076070909,"score_spread":0.2196378097801464,"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."}}