{"id":"W3138851647","doi":"10.1002/mgg3.1663","title":"Panel‐based genetic testing for inherited retinal disease screening 176 genes","year":2021,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute for Health and Care Research; Foundation Fighting Blindness; Wellcome Trust; Retina UK; Fight for Sight","keywords":"Genetic testing; Disease; Genetics; Retinal; Gene; Biology; Medicine; Computational biology; Bioinformatics; Ophthalmology; Pathology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002772475,0.0004067868,0.0003455878,0.0001024976,0.0001647414,0.00004100057,0.0003397223,0.0001621846,0.00006410629],"category_scores_gemma":[0.0006549006,0.0004207882,0.0001644154,0.0002911734,0.0001937823,0.000002355588,0.0001827638,0.0001127821,0.000007754221],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002417009,"about_ca_system_score_gemma":0.0004848206,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001308129,"about_ca_topic_score_gemma":0.000008594249,"domain_scores_codex":[0.9974878,0.0001324082,0.0005643449,0.0008775537,0.0003397034,0.000598203],"domain_scores_gemma":[0.9982409,0.00005647831,0.0001799625,0.0006885971,0.0004446681,0.000389322],"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":[0.0002111996,0.00005186877,0.01943981,0.0001099392,0.00008894606,0.0001403705,0.00003667519,0.002682708,0.9602848,0.00002015523,0.0006584894,0.016275],"study_design_scores_gemma":[0.01023581,0.002016639,0.3115209,0.0004950864,0.0008785418,0.0001659228,0.0004378815,0.01997463,0.433207,0.001122327,0.2174586,0.002486664],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7976933,0.02402476,0.176072,0.001083103,0.0002213484,0.0005046864,0.00002551886,0.00003263122,0.0003426805],"genre_scores_gemma":[0.8722496,0.0005761426,0.1218032,0.002940289,0.0005702826,0.0001321469,0.001064614,0.0001368251,0.0005269396],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5270778,"threshold_uncertainty_score":0.9998244,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03528766371961732,"score_gpt":0.2684089329393815,"score_spread":0.2331212692197641,"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."}}