{"id":"W2016718419","doi":"10.1016/j.ymgme.2013.09.018","title":"Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing","year":2013,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; BC Children's Hospital","funders":"","keywords":"Sanger sequencing; Exon; Biology; Genetics; Pseudogene; Gene duplication; Gene; Multiplex ligation-dependent probe amplification; genomic DNA; Tandem exon duplication; Molecular biology; Mutation; Genome","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002326367,0.000158491,0.000153695,0.0000512938,0.00004379058,0.0000434189,0.0001695577,0.0001382266,0.00001185234],"category_scores_gemma":[0.00002207474,0.0001233607,0.0000764701,0.0001357729,0.00008334596,0.000005170704,0.00005051145,0.0001164062,0.000001115895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007514448,"about_ca_system_score_gemma":0.00003117949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002334782,"about_ca_topic_score_gemma":0.00003525525,"domain_scores_codex":[0.9988567,0.00007969797,0.000268962,0.0003229939,0.0002273952,0.0002442889],"domain_scores_gemma":[0.9994652,0.000004385952,0.00005928583,0.000306766,0.00009284658,0.00007152634],"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":[0.00001079849,0.00006610025,0.00002571456,0.00001288439,0.0000330643,0.000001673807,0.00009175223,0.00003150029,0.9905459,0.00002818313,0.00008574297,0.009066674],"study_design_scores_gemma":[0.0006969541,0.00009194792,0.001169783,0.000004817313,0.00003435677,0.00001414785,0.00005796791,0.001160317,0.9923847,0.00003613077,0.004206829,0.0001420642],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9619052,0.01130545,0.026001,0.0001974402,0.00003681568,0.0004482506,0.00001367688,0.000003065492,0.00008913364],"genre_scores_gemma":[0.9959373,0.001516619,0.001684313,0.0004822708,0.00008284427,0.000109501,0.0001275185,0.00002073266,0.00003891091],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03403213,"threshold_uncertainty_score":0.5030506,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02610945922311435,"score_gpt":0.2421933353888397,"score_spread":0.2160838761657253,"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."}}