{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001292459,0.0007674248,0.0006134585,0.002896651,0.0005788258,0.000448455,0.001546586,0.001050104,0.006428858],"category_scores_gemma":[0.002639463,0.0002920136,0.000576476,0.001042867,0.0004325323,0.0002839805,0.00103593,0.000846204,0.002014349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005700146,"about_ca_system_score_gemma":0.001180858,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003666155,"about_ca_topic_score_gemma":0.004194194,"domain_scores_codex":[0.9974546,0.0005348613,0.0003336229,0.0005428962,0.0008384685,0.0002955289],"domain_scores_gemma":[0.9987777,0.0002130991,0.0001382249,0.0001312217,0.000564845,0.0001749692],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001929765,0.003681619,0.1471915,0.001330846,0.0002651352,0.01341646,0.0009898115,0.004403658,0.4315808,0.004719639,0.05967852,0.3308122],"study_design_scores_gemma":[0.001185535,0.00791943,0.3658515,0.001398126,0.0005384397,0.04310392,0.0009073905,0.03364485,0.3000564,0.004584408,0.240429,0.0003810583],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.2990555,0.0063138,0.448593,0.005515207,0.001228702,0.1305468,0.02048629,0.003712166,0.08454843],"genre_scores_gemma":[0.4222204,0.004727514,0.4451998,0.00796957,0.0003084475,0.06194195,0.03040745,0.0002213746,0.02700344],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.006428858,"threshold_uncertainty_score":0.02150673,"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."}}