{"id":"W3127488843","doi":"10.1002/mgg3.1609","title":"Whole exome sequencing reveals a biallelic frameshift mutation in <i>GRXCR2</i> in hearing impairment in Cameroon","year":2021,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Health Sciences; McMaster University; Population Health Research Institute","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health; Wellcome Trust","keywords":"Frameshift mutation; Exome sequencing; Genetics; Multiplex; Biology; Gene; In silico; Mutation; Hearing loss; Medicine; Audiology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001140487,0.0003792027,0.0006309687,0.0006901008,0.00005259983,0.00005165239,0.0004075346,0.0002170054,0.00006157241],"category_scores_gemma":[0.001138639,0.0004396288,0.00006798556,0.001440209,0.0001560419,0.00005102799,0.0003288783,0.0006686318,0.00005970459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008905468,"about_ca_system_score_gemma":0.0005493573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006463128,"about_ca_topic_score_gemma":0.001052003,"domain_scores_codex":[0.995442,0.0006380566,0.00122337,0.001099097,0.0006664114,0.0009310713],"domain_scores_gemma":[0.9984927,0.0001759477,0.0002031813,0.0008205055,0.00006869494,0.0002389748],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002099861,0.00008821042,0.006836181,0.00007692742,0.000004031675,0.002999154,0.004373967,0.02402217,0.9594414,0.00006751435,0.00002037842,0.002049035],"study_design_scores_gemma":[0.006709206,0.0006861904,0.1364393,0.001342229,0.00004280202,0.0004432998,0.002203118,0.02012143,0.8249279,0.003230613,0.002716235,0.001137662],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921671,0.002717987,0.001746852,0.001779138,0.0002874857,0.0007424518,0.000004968121,0.00003726204,0.0005167164],"genre_scores_gemma":[0.9924201,0.0006403213,0.002771997,0.003768378,0.0001082786,0.00005382013,0.0000183484,0.00008583444,0.0001329041],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1345135,"threshold_uncertainty_score":0.9998056,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.042575229091351,"score_gpt":0.294533065223354,"score_spread":0.251957836132003,"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."}}