{"id":"W3181657693","doi":"10.1080/13816810.2021.1946704","title":"Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome","year":2021,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Alcon Research Institute; National Eye Institute; National Institute on Aging; National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology; Prevent Blindness; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; National Cancer Institute; National Institutes of Health; Foundation Fighting Blindness","keywords":"Sensorineural hearing loss; Medicine; Stargardt disease; Pathology; Usher syndrome; Retinal pigment epithelium; Retinal; Disease; Ophthalmology; Hearing loss; Retinitis pigmentosa; Audiology","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":[0.0001497051,0.0001587514,0.0001567696,0.00001950244,0.00008427874,0.00003944158,0.000114864,0.000105876,0.00003492098],"category_scores_gemma":[0.0001457736,0.0001086275,0.00004238161,0.0001799337,0.00009681862,0.000003607098,0.0001044411,0.0001295022,0.000005048755],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001901585,"about_ca_system_score_gemma":0.0002457039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002233991,"about_ca_topic_score_gemma":0.00001961995,"domain_scores_codex":[0.9987842,0.0001365418,0.0002326836,0.0003611398,0.0002138072,0.0002716503],"domain_scores_gemma":[0.9993815,0.00002916571,0.00008009902,0.0002923627,0.000111418,0.0001054156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003274176,0.0002323128,0.9983736,0.00000623908,0.00007266172,0.0001481558,0.00002872317,0.0001560943,0.0003085283,0.000003847967,0.00007321114,0.000269199],"study_design_scores_gemma":[0.001482302,0.0002300543,0.9975635,0.00005902,0.00004007367,0.00001624521,0.00003893396,0.00003206602,0.0001671548,0.00004924911,0.0001199093,0.0002014442],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987841,0.0002845679,0.0001188037,0.00008050227,0.0001110829,0.0001776391,0.000007662714,0.000005000918,0.000430614],"genre_scores_gemma":[0.9987383,0.00004626457,0.0004682739,0.0001409368,0.00002868064,0.000008648893,0.0002089606,0.00002774835,0.0003321337],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001154885,"threshold_uncertainty_score":0.4429701,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01684298570510474,"score_gpt":0.2697258051866285,"score_spread":0.2528828194815238,"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."}}