{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001135529,0.0001544295,0.0003554174,0.0005370491,0.00002361052,0.00003247432,0.0004135681,0.00003580234,0.000005791438],"category_scores_gemma":[0.0007346096,0.0001449873,0.00003792907,0.0004908442,0.0002988631,0.0001866762,0.0001109891,0.000289581,0.000002629193],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004354873,"about_ca_system_score_gemma":0.0000956536,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005628733,"about_ca_topic_score_gemma":0.0001201718,"domain_scores_codex":[0.9972537,0.0004283637,0.001422141,0.0002406501,0.0004393591,0.0002157671],"domain_scores_gemma":[0.9980409,0.0001806632,0.00110426,0.0003043578,0.0002989378,0.00007083795],"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":[0.00006391582,0.0002187831,0.07247457,0.0001596575,0.000003415637,0.00001444419,0.002371673,0.004084501,0.9192616,0.00004921344,0.000006274255,0.001291908],"study_design_scores_gemma":[0.001824134,0.0009748022,0.7553906,0.001507154,0.00001350321,0.00002779789,0.0003865912,0.003084786,0.2365352,0.00006878249,0.00003419736,0.0001524547],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974576,0.0008798098,0.001182669,0.00004095231,0.00005153821,0.0003021611,0.000002096011,0.000003431658,0.00007970391],"genre_scores_gemma":[0.9960727,0.0004797791,0.0033316,0.00002986724,0.00002786126,0.000001817306,1.98797e-7,0.00003037176,0.00002581079],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.682916,"threshold_uncertainty_score":0.5912412,"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."}}