{"id":"W1989047887","doi":"10.1002/mgg3.108","title":"Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms","year":2014,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Child and Family Research Institute; University of Saskatchewan; University of Toronto; SickKids Foundation; Royal University Hospital; University of British Columbia; Hospital for Sick Children","funders":"","keywords":"Breakpoint; Biology; Genetics; Gene duplication; Exon; Dystrophin; Duchenne muscular dystrophy; Multiplex ligation-dependent probe amplification; Copy-number variation; Non-allelic homologous recombination; Chromothripsis; Gene; Chromosome; Genome; Recombination; Genetic recombination; DNA; Genome instability","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":[0.0007886582,0.0002708172,0.0002920415,0.0001237917,0.00009497478,0.00001324894,0.0007466588,0.0001448254,0.0000708993],"category_scores_gemma":[0.0001421382,0.0002233372,0.00007890133,0.0001895976,0.0001337101,0.000001291278,0.0001478615,0.0001271044,0.00005315301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000028918,"about_ca_system_score_gemma":0.00005942205,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006144749,"about_ca_topic_score_gemma":0.00004704286,"domain_scores_codex":[0.9978897,0.0003259247,0.0004158871,0.0007354254,0.0002280211,0.0004050326],"domain_scores_gemma":[0.9980798,0.00002526502,0.0001185007,0.00157123,0.00006642732,0.000138763],"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":[0.0001066206,0.00005532815,0.0001130024,0.00001179871,0.00002985666,0.000008508941,0.0001327796,0.003006353,0.9926938,0.0005333787,0.001301805,0.002006761],"study_design_scores_gemma":[0.009709461,0.005153175,0.2127865,0.00007427586,0.0002636191,0.0001023648,0.0004620744,0.007740112,0.6075578,0.01332391,0.141147,0.001679632],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8503767,0.0005447575,0.1441965,0.003280454,0.0001204686,0.00064795,0.00001035438,0.00001231771,0.0008105254],"genre_scores_gemma":[0.9773752,0.00005775901,0.006923545,0.01476959,0.0002102961,0.000118283,0.0004503593,0.00004512725,0.00004980452],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.385136,"threshold_uncertainty_score":0.9107428,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01626160805486754,"score_gpt":0.2667019564286225,"score_spread":0.250440348373755,"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."}}