{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000182811,0.0001596656,0.0001583212,0.000111143,0.00006564635,0.00002609907,0.0001980341,0.0001306946,0.0001314137],"category_scores_gemma":[0.0000468441,0.000169067,0.00009271014,0.0005777172,0.00002442282,0.000003771748,0.0001049169,0.00007204101,0.0001289358],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003034286,"about_ca_system_score_gemma":0.00005523199,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003953564,"about_ca_topic_score_gemma":0.00005490949,"domain_scores_codex":[0.9988965,0.00004282993,0.0002428247,0.0002953172,0.000130432,0.0003920927],"domain_scores_gemma":[0.9993488,0.00001267237,0.00005324233,0.0003743371,0.00004628511,0.0001646338],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002799633,0.00006846071,0.8983116,0.000009718026,0.0001700987,0.000003565937,0.0001783355,0.001150365,0.09691109,0.00005460289,0.0007185171,0.002395666],"study_design_scores_gemma":[0.0004069939,0.00006927179,0.9471818,0.000008781471,0.0001431841,0.0000581397,0.0001700531,0.0001186569,0.0376213,0.0001953982,0.01354031,0.0004861589],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983441,0.0005942251,0.006916143,0.0001154574,0.00009517277,0.000201966,0.000005958808,0.000008246841,0.008621813],"genre_scores_gemma":[0.987933,0.0001857232,0.0107735,0.0001716639,0.00006102174,0.00004607685,0.00009406661,0.00002129421,0.0007136374],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05928978,"threshold_uncertainty_score":0.6894352,"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."}}