{"id":"W2761793335","doi":"10.1038/s41467-017-00595-4","title":"A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction","year":2017,"lang":"en","type":"article","venue":"Nature Communications","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":153,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Centre for Phenogenomics; Hospital for Sick Children; Mount Sinai Hospital","funders":"Biotechnology and Biological Sciences Research Council; Medical Research Council; Centre National de la Recherche Scientifique; Institut National de la Santé et de la Recherche Médicale; National Human Genome Research Institute; Wellcome Trust; Agence Nationale de la Recherche; Government of Canada; PHENOMIN; European Commission; Genome Canada; Ontario Genomics; National Institutes of Health","keywords":"Hearing loss; Candidate gene; Biology; Loss function; Genetics; Gene; Auditory system; Genetic screen; Genetic heterogeneity; Phenotype; Audiology; Medicine; Neuroscience","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":["sts"],"consensus_categories":[],"category_scores_codex":[0.0004643381,0.0002116433,0.0002477641,0.0001346709,0.002631046,0.000294417,0.002489504,0.0003767955,0.00001674807],"category_scores_gemma":[0.002836488,0.0002264176,0.0001070658,0.0001675952,0.0002966374,0.0003698892,0.0009305438,0.0009444512,0.00006392464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006688507,"about_ca_system_score_gemma":0.000109517,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002842338,"about_ca_topic_score_gemma":0.0007558797,"domain_scores_codex":[0.9980728,0.0002798083,0.0003350295,0.0005375039,0.000303224,0.0004716494],"domain_scores_gemma":[0.9932504,0.0004327762,0.000325126,0.005406983,0.0003912841,0.0001934863],"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":[0.0003778105,0.001775631,0.1095399,0.0001783275,0.00009464034,0.00002538989,0.007036093,0.0005143333,0.8040429,0.01371543,0.0485392,0.0141604],"study_design_scores_gemma":[0.002355561,0.0003002679,0.7776674,0.0001609944,0.0001189619,0.00005310096,0.0006786122,0.0198376,0.01712998,0.002647352,0.1782255,0.0008246797],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.982655,0.001404925,0.00365292,0.005248628,0.001269048,0.001441437,0.0002694023,0.0003191664,0.003739499],"genre_scores_gemma":[0.9810926,0.0004682238,0.01601521,0.001129502,0.0004615762,0.000144746,0.00006046505,0.00006155567,0.0005661362],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7869129,"threshold_uncertainty_score":0.9986674,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07487564352793609,"score_gpt":0.3526327377351743,"score_spread":0.2777570942072382,"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."}}