{"id":"W2088456186","doi":"10.1002/humu.22626","title":"Genetic and Clinical Analysis of <i> <scp>ABCA</scp> 4 </i> ‐Associated Disease in African American Patients","year":2014,"lang":"en","type":"article","venue":"Human Mutation","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; National Institutes of Health; Foundation Fighting Blindness; Research to Prevent Blindness","keywords":"ABCA4; Stargardt disease; Biology; Allele; Genetics; Disease; Mutation; Genetic testing; Compound heterozygosity; Cohort; Gene; Phenotype; Internal medicine; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001475189,0.0004474453,0.0002739645,0.0009504374,0.0007067752,0.0003558319,0.0001385714,0.000297737,0.00134198],"category_scores_gemma":[0.0009067903,0.0001472505,0.0002581489,0.0006738998,0.0003283694,0.0002184919,0.0002825877,0.0002094573,0.0001585762],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002122477,"about_ca_system_score_gemma":0.00021195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003275891,"about_ca_topic_score_gemma":0.002157027,"domain_scores_codex":[0.9998547,0.00002415346,0.00001764464,0.00003841402,0.00002585004,0.00003917309],"domain_scores_gemma":[0.9997504,0.00004712893,0.00009995329,0.00001081204,0.00002931615,0.00006227002],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004301989,0.00004880565,0.966024,0.00002191478,0.00005054606,0.01022442,0.0004369071,0.0001171277,0.01580813,0.0001260963,0.0001993582,0.006512471],"study_design_scores_gemma":[0.00002077236,0.000187094,0.9705466,0.00001308451,0.00005794298,0.02651224,0.0003190193,0.0003688157,0.001210971,0.00009251388,0.0006593054,0.00001171582],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996226,0.00005907708,0.00003679833,0.00001415845,0.000001425327,0.000003819032,0.00004474793,0.000001931269,0.000215426],"genre_scores_gemma":[0.9996569,0.00006061906,0.000112661,0.00001716464,0.000005835605,0.000003719609,0.00007536153,0.000002303381,0.00006542105],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003275891,"threshold_uncertainty_score":0.006513655,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007424749510006245,"score_gpt":0.2682592118163681,"score_spread":0.2608344623063619,"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."}}