{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001820049,0.0004187558,0.0007228495,0.00009786048,0.0001348774,0.00005387375,0.001502293,0.0004657382,0.00009945255],"category_scores_gemma":[0.006871884,0.0003438555,0.0002168419,0.00113517,0.001200434,0.000008475144,0.0004134122,0.0008939781,0.000004920533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003601257,"about_ca_system_score_gemma":0.001044414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001588819,"about_ca_topic_score_gemma":0.00004105819,"domain_scores_codex":[0.9943145,0.0004835685,0.001680456,0.0005426505,0.002050431,0.0009283758],"domain_scores_gemma":[0.9968732,0.0009587335,0.0007153453,0.0003514677,0.0002398792,0.0008614017],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001252058,0.0004694058,0.818418,0.0001096613,0.0003368741,0.0003142612,0.002648149,0.01022435,0.002956618,0.00004147113,0.07516244,0.08919352],"study_design_scores_gemma":[0.008275795,0.008216001,0.3067503,0.001709299,0.0003123251,0.0004681633,0.006939156,0.01360971,0.002482134,0.001970839,0.6483539,0.0009124184],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9775966,0.01281103,0.00450697,0.003842978,0.0004754997,0.0004697976,0.00002986544,0.00001017837,0.0002571106],"genre_scores_gemma":[0.9335238,0.02203253,0.02697863,0.0149816,0.002161245,0.00008482807,0.00008376176,0.0001081952,0.00004540573],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5731915,"threshold_uncertainty_score":0.9999014,"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."}}