{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001220802,0.0002507447,0.0002040391,0.00007160619,0.0001918139,0.00002778964,0.0001039459,0.00008973794,0.000003712717],"category_scores_gemma":[0.0001913251,0.0002205576,0.00007648484,0.0003684644,0.0001302495,0.000003104689,0.0002286323,0.00008951598,0.00002695758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001583191,"about_ca_system_score_gemma":0.00006401693,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000229698,"about_ca_topic_score_gemma":0.000267281,"domain_scores_codex":[0.9987463,0.00004149023,0.000193539,0.0004554943,0.0001740724,0.0003891526],"domain_scores_gemma":[0.9993989,0.0000168301,0.00007334278,0.0002597371,0.0001654351,0.00008571949],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001028251,0.0001312328,0.0003446532,0.00001985401,0.00142216,0.01458132,0.0003931782,0.0003409441,0.9790611,0.00003048479,0.003175979,0.000396281],"study_design_scores_gemma":[0.0192849,0.00820874,0.03978454,0.0003332507,0.001552604,0.03422264,0.01279191,0.00263102,0.8340205,0.000358787,0.04001288,0.00679823],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974246,0.0009577266,0.000478148,0.0002321871,0.0001267595,0.0002428023,0.00006603348,0.0000595499,0.0004121616],"genre_scores_gemma":[0.9980618,0.0002521638,0.0001861739,0.000609949,0.00001193897,0.00005163105,0.000275446,0.0000486123,0.0005023211],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1450406,"threshold_uncertainty_score":0.8994079,"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."}}