{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004412672,0.0003828235,0.0002038576,0.0009540392,0.0004024116,0.0003745851,0.0003046926,0.0003827189,0.001638973],"category_scores_gemma":[0.00183444,0.0001213928,0.0002057901,0.0003771607,0.0003954966,0.0003435343,0.00039315,0.000322082,0.0004111021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002961643,"about_ca_system_score_gemma":0.000256556,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007088918,"about_ca_topic_score_gemma":0.0009580955,"domain_scores_codex":[0.9994462,0.0001078519,0.00007078129,0.0001154621,0.0001694001,0.00009029561],"domain_scores_gemma":[0.9991179,0.0003867311,0.0002376067,0.00005988144,0.00007389676,0.0001240675],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002150686,0.00006583772,0.7530731,0.00006879195,0.00002462171,0.1936608,0.0005388869,0.0004976058,0.01521032,0.0002976627,0.001105333,0.03524202],"study_design_scores_gemma":[0.00001268157,0.0005035773,0.2440897,0.00005809196,0.00005551384,0.7373366,0.0003876089,0.001348567,0.01179319,0.000310501,0.004080373,0.00002361348],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955634,0.0005142426,0.0007745476,0.0001143604,0.00001204403,0.00001807955,0.0001032245,0.00002445939,0.002875797],"genre_scores_gemma":[0.9986283,0.0001740617,0.0008343671,0.00006603141,0.00001607178,0.000004917046,0.00005871214,0.000005130738,0.0002124602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001638973,"threshold_uncertainty_score":0.005482912,"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."}}