{"id":"W3141092288","doi":"10.1038/s41431-021-00872-3","title":"Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation","year":2021,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"University of Alberta","keywords":"Exome sequencing; Genetics; Biology; Exome; Disease; Genetic heterogeneity; Retinitis pigmentosa; Gene; Bioinformatics; Medicine; Mutation; Pathology; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000186386,0.0003933516,0.0002386065,0.0009350036,0.0004131721,0.0004807083,0.0002319258,0.0005023829,0.001445704],"category_scores_gemma":[0.0004763504,0.0001150527,0.0002606237,0.0006886425,0.0003403763,0.0001028604,0.000340916,0.0002186588,0.0001750622],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004866366,"about_ca_system_score_gemma":0.0004108777,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01780246,"about_ca_topic_score_gemma":0.04197899,"domain_scores_codex":[0.9998211,0.00001830998,0.0000160994,0.0000469234,0.00005323897,0.00004435249],"domain_scores_gemma":[0.9998298,0.00005324086,0.00004285344,0.00001627057,0.00002188293,0.00003589312],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001182464,0.0001500102,0.5045919,0.000178914,0.0004351335,0.0612171,0.001827632,0.001386085,0.3916209,0.001066601,0.001695924,0.03464725],"study_design_scores_gemma":[0.00002590887,0.00006643288,0.9646432,0.00002974631,0.0001495089,0.01942239,0.000401995,0.0009930677,0.01139456,0.0002856786,0.002570812,0.00001662565],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977832,0.0004064451,0.0003723395,0.00008156243,0.000004675255,0.000008790749,0.0006895163,0.00001409637,0.0006394368],"genre_scores_gemma":[0.9974463,0.000273394,0.0007231673,0.00007323203,0.000004746823,0.000005291471,0.000828344,0.000006503464,0.0006391151],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01780246,"threshold_uncertainty_score":0.03539771,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02943486273216519,"score_gpt":0.2609190365730462,"score_spread":0.231484173840881,"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."}}