{"id":"W2066712955","doi":"10.1089/109065702760093852","title":"Diagnostic DNA Testing for X-Linked Ocular Albinism ( <i>OA1</i> ) with a Hierarchical Mutation Screening Protocol","year":2002,"lang":"en","type":"article","venue":"Genetic Testing","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Vision of Children Foundation","keywords":"Albinism; Genetics; Biology; Oculocutaneous albinism; Mutation; Point mutation; Population; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000197072,0.0002108826,0.0001493032,0.00004602991,0.0002452118,0.00006552105,0.0001432351,0.0001117596,0.00001363041],"category_scores_gemma":[0.002279019,0.0001955567,0.000047143,0.0001874353,0.00006479769,0.000006089874,0.00005102907,0.00009871145,0.000006508955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000114455,"about_ca_system_score_gemma":0.0000381871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001227496,"about_ca_topic_score_gemma":0.000005066813,"domain_scores_codex":[0.9985513,0.00007381433,0.0003280677,0.0004736011,0.0002014353,0.000371776],"domain_scores_gemma":[0.9988541,0.0004389149,0.0001750898,0.0002459475,0.0001749891,0.0001109794],"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":[0.0001347634,0.0002019587,0.07171015,0.0002958939,0.0001190024,0.00008608096,0.0003464352,0.006887387,0.7395939,0.00003366709,0.000816224,0.1797745],"study_design_scores_gemma":[0.02524272,0.0166776,0.2291982,0.001745215,0.0005412186,0.002217413,0.0005250854,0.3495593,0.3535202,0.001659533,0.01528731,0.003826169],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8209504,0.00009910654,0.1516317,0.0001146568,0.00006921964,0.02582059,0.00001364877,0.00009102388,0.001209594],"genre_scores_gemma":[0.6625074,8.182212e-7,0.3134381,0.0002278333,0.0004354995,0.02317291,0.00006365035,0.00005270133,0.0001010551],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3860737,"threshold_uncertainty_score":0.7974569,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03885303596931249,"score_gpt":0.272916621176755,"score_spread":0.2340635852074425,"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."}}