{"id":"W4399502264","doi":"10.1080/13816810.2024.2357307","title":"Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A","year":2024,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Waardenburg syndrome; Medicine; Pigmentation disorder; Dermatology; Ophthalmology; Biology; Genetics","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003510771,0.001339696,0.0005163729,0.002042418,0.001399942,0.000881862,0.0007142992,0.002182561,0.002686591],"category_scores_gemma":[0.002328216,0.000910093,0.0006124913,0.0006827969,0.001326417,0.0007974032,0.001362028,0.001401548,0.0004826031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008814285,"about_ca_system_score_gemma":0.000565753,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003926557,"about_ca_topic_score_gemma":0.003471474,"domain_scores_codex":[0.999393,0.00006954194,0.00007151396,0.0002033379,0.0001233401,0.000139339],"domain_scores_gemma":[0.9990427,0.0002553101,0.0002454757,0.00008351899,0.00005786097,0.0003150934],"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":[0.00003432171,0.00003223548,0.01630775,0.00001568497,0.00001079165,0.9800015,0.0004183879,0.00005007439,0.002140822,0.0001294179,0.00008731736,0.0007716453],"study_design_scores_gemma":[0.00001072606,0.00007456173,0.01885508,0.000008580926,0.00001335692,0.9795443,0.0001961091,0.0001775408,0.0006741894,0.0001237411,0.0003105435,0.00001119254],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959201,0.0003584165,0.0006686325,0.0002956805,0.00004106242,0.00006746003,0.0001042951,0.00004772546,0.002496566],"genre_scores_gemma":[0.9988132,0.0001343235,0.0004378011,0.00007921451,0.00002913872,0.00001005217,0.0000330076,0.0000117426,0.0004516743],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003926557,"threshold_uncertainty_score":0.008987546,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01631270311265627,"score_gpt":0.312280426872455,"score_spread":0.2959677237597987,"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."}}