{"id":"W3084210898","doi":"10.1002/ajmg.c.31843","title":"Genetic testing for inherited eye conditions in over 6,000 individuals through the <scp>eyeGENE</scp> network","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; National Institutes of Health","keywords":"ABCA4; Genetic testing; Choroideremia; Clinical trial; Medicine; Biorepository; Genotyping; Retinitis pigmentosa; Stargardt disease; Disease; Genotype; Genetics; Biology; Phenotype; Gene; Biobank; Pathology; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.004419251,0.0001786869,0.0003069165,0.001660688,0.0008418727,0.0008414204,0.000411553,0.0003516853,0.002211619],"category_scores_gemma":[0.01066128,0.0002060167,0.0002940463,0.002108505,0.0003125872,0.0004597109,0.0007356097,0.0003753964,0.0004555321],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008459331,"about_ca_system_score_gemma":0.00156786,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01816505,"about_ca_topic_score_gemma":0.0301677,"domain_scores_codex":[0.9955439,0.001485429,0.0006744327,0.0007842298,0.001273546,0.0002384403],"domain_scores_gemma":[0.9897983,0.002469672,0.004438212,0.0008721013,0.001738045,0.0006837128],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007282851,0.00009706255,0.9557579,0.0002084616,0.0001870487,0.0006071149,0.0003637182,0.0001296855,0.00115585,0.000266884,0.01495013,0.02554785],"study_design_scores_gemma":[0.0002400168,0.0002236079,0.983366,0.000238112,0.0001463218,0.001332522,0.0002492421,0.0001832015,0.0004426232,0.0001044175,0.0134579,0.00001609983],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9433833,0.003296119,0.001672577,0.001121804,0.00009174889,0.001530578,0.03337914,0.00009101918,0.01543368],"genre_scores_gemma":[0.9604746,0.002600819,0.003570483,0.001850504,0.0001450307,0.002856931,0.02496684,0.00006669039,0.003468104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01816505,"threshold_uncertainty_score":0.03611863,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01918207433548814,"score_gpt":0.3086983542637309,"score_spread":0.2895162799282428,"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."}}