{"id":"W4403466955","doi":"10.1007/s00439-024-02706-w","title":"Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases","year":2024,"lang":"en","type":"article","venue":"Human Genetics","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Stichting Het Heinsius-Houbolt Fonds","keywords":"Genetics; Exome sequencing; Biology; Missense mutation; Candidate gene; Gene; Exome; Human genetics; Allele; Phenotype; Hearing loss; Medicine","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":[0.0005279168,0.000389641,0.0003260793,0.000951837,0.0003979569,0.0005754234,0.0002874961,0.0003772903,0.003476187],"category_scores_gemma":[0.001426314,0.0001078168,0.0003146395,0.0006672093,0.0002626171,0.0002461911,0.0003380321,0.0003214381,0.0003277317],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001348116,"about_ca_system_score_gemma":0.0001259584,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001270348,"about_ca_topic_score_gemma":0.00225663,"domain_scores_codex":[0.9997399,0.00004851681,0.00002636747,0.0001042736,0.00004210697,0.00003890079],"domain_scores_gemma":[0.9995346,0.0002130074,0.0001069014,0.00005086597,0.00003853806,0.00005614863],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009646027,0.00006329492,0.9339587,0.00004756492,0.0001803204,0.004572185,0.0002780648,0.000320023,0.04666257,0.0001386739,0.0005741916,0.01223981],"study_design_scores_gemma":[0.0000308319,0.000118573,0.9870616,0.00001773953,0.0001172146,0.00694976,0.0003242588,0.001646206,0.00280011,0.000186823,0.0007354007,0.00001144594],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998785,0.0001485203,0.0005083312,0.00003747608,0.00000319328,0.000006675346,0.0002154634,0.00001331576,0.0002820332],"genre_scores_gemma":[0.9990962,0.00006606304,0.0003397702,0.00002102067,0.000004810983,0.00000368855,0.00028599,0.000007113502,0.0001754626],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003476187,"threshold_uncertainty_score":0.01162899,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1141081992110689,"score_gpt":0.3668304643773265,"score_spread":0.2527222651662576,"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."}}