{"id":"W4320557246","doi":"10.1101/mcs.a006259","title":"A novel<i>WFS1</i>variant associated with isolated congenital cataracts","year":2023,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Genetics; University of Calgary; University of Manitoba; Children's Hospital Research Institute of Manitoba","funders":"Genome Canada","keywords":"Proband; Cataracts; Exome sequencing; Wolfram syndrome; Genetics; Phenotype; Disease; Exome; Medicine; Gene; Bioinformatics; Biology; Mutation; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0001997956,0.001184393,0.0006004451,0.001355915,0.001153936,0.0005701654,0.0006532008,0.001645443,0.001921746],"category_scores_gemma":[0.001165257,0.0003418335,0.0006946427,0.001043011,0.001384307,0.0004516586,0.0007738689,0.001046739,0.000369345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000623393,"about_ca_system_score_gemma":0.0005844446,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003978051,"about_ca_topic_score_gemma":0.004007032,"domain_scores_codex":[0.9996693,0.00002458173,0.00003962614,0.0001033424,0.00006593008,0.00009714087],"domain_scores_gemma":[0.9991404,0.0002283742,0.0002937446,0.00004215591,0.00004519405,0.0002502494],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001048499,0.00004243845,0.01110464,0.00003833676,0.00002921479,0.9692337,0.0002725169,0.0002160889,0.01481457,0.0007503036,0.0004328697,0.002960518],"study_design_scores_gemma":[0.00002513329,0.0001082597,0.02236067,0.00001334974,0.00004279061,0.9691306,0.0001171246,0.0006346639,0.006100957,0.0004839409,0.0009592332,0.00002333471],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994301,0.000568269,0.001779681,0.0005724715,0.00009228944,0.00004080898,0.0001813578,0.0001252354,0.002338857],"genre_scores_gemma":[0.9982493,0.0001424132,0.0007131879,0.0001466007,0.00008586836,0.000006511599,0.00005442059,0.00001840733,0.0005833179],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003978051,"threshold_uncertainty_score":0.007909775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01686856237949173,"score_gpt":0.2497541085773891,"score_spread":0.2328855461978974,"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."}}