{"id":"W4399433148","doi":"10.1080/13816810.2024.2357705","title":"Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey","year":2024,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Institut Universitaire de Gériatrie de Montréal; Université de Montréal; Hôpital Maisonneuve-Rosemont; Université de Sherbrooke","funders":"","keywords":"Choroideremia; Disease; Genotype; Phenotype; Medicine; Psychosocial; Gerontology; Genetics; Retinal; Biology; Internal medicine; Ophthalmology; Psychiatry; Gene","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":[0.001037036,0.0001897075,0.0002144,0.0007325508,0.0003132414,0.0004918594,0.0002016034,0.000353253,0.001245168],"category_scores_gemma":[0.002386014,0.0001529717,0.0004656004,0.001074252,0.000299479,0.0004943277,0.0007565045,0.0003295769,0.0002176366],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003169753,"about_ca_system_score_gemma":0.0003330469,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007655363,"about_ca_topic_score_gemma":0.01059726,"domain_scores_codex":[0.9994374,0.0002417968,0.00006255714,0.0000649502,0.00007852187,0.0001148157],"domain_scores_gemma":[0.9988306,0.0002522528,0.0005263765,0.00004002821,0.0001563719,0.0001943667],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002225719,0.00001719015,0.9945753,0.0000551805,0.0000294333,0.00007221122,0.00115459,0.00002130205,0.0001120785,0.00001859406,0.0002279934,0.003693982],"study_design_scores_gemma":[0.000001660892,0.00007625053,0.9958186,0.0000306857,0.00001379782,0.0001413297,0.003187818,0.00003591307,0.00002090179,0.00001217753,0.0006577907,0.000003146182],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968336,0.0005015422,0.00006150145,0.0003324322,0.000007633062,0.00002625764,0.001027701,0.000002325733,0.001207016],"genre_scores_gemma":[0.9986001,0.0005325376,0.00007839745,0.00016505,0.000008462564,0.00002732583,0.0004015337,0.000001283658,0.0001853574],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007655363,"threshold_uncertainty_score":0.0152216,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05619426770395566,"score_gpt":0.300741476620581,"score_spread":0.2445472089166253,"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."}}