{"id":"W2102035451","doi":"10.3109/13816810.2012.752016","title":"Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia","year":2012,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of British Columbia","funders":"Alberta Innovates","keywords":"Choroideremia; Multiplex ligation-dependent probe amplification; Gene duplication; Exon; Gene; Biology; Genetics; Copy-number variation; splice; Mutation; Segmental duplication; Multiplex; Molecular biology; Gene family; Gene expression; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002143101,0.0002894623,0.0001914369,0.001351012,0.0001980187,0.0002181568,0.0003070266,0.0004029181,0.001654625],"category_scores_gemma":[0.001355934,0.0001170894,0.0001285442,0.0004021926,0.0003193692,0.0001295636,0.0002094635,0.0002190768,0.0002483082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002860872,"about_ca_system_score_gemma":0.0001793562,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009669865,"about_ca_topic_score_gemma":0.00111641,"domain_scores_codex":[0.9998004,0.00003058771,0.00001810541,0.00005934046,0.00006706479,0.00002446725],"domain_scores_gemma":[0.999593,0.0001884575,0.00009096362,0.00003072203,0.00004553153,0.00005141617],"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":[0.001334365,0.0001272662,0.3496734,0.0001815442,0.0001146864,0.07613052,0.0007411477,0.00109419,0.5366896,0.0006853822,0.0005160082,0.03271182],"study_design_scores_gemma":[0.0001150669,0.0007878143,0.5859422,0.00005125203,0.0001275172,0.2181361,0.00029215,0.006192079,0.1848326,0.0007359815,0.002749999,0.00003718586],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983789,0.0002595915,0.0006751539,0.00004107671,0.00000431287,0.0000129234,0.00008589097,0.00003096664,0.0005113209],"genre_scores_gemma":[0.998874,0.00004208085,0.0008040998,0.0000119539,0.000003743953,0.000005349659,0.00006154447,0.000004481609,0.0001927952],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001654625,"threshold_uncertainty_score":0.005535245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02331486035734939,"score_gpt":0.3127644873967694,"score_spread":0.28944962703942,"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."}}