{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001470467,0.0004901273,0.0002246285,0.0005085822,0.0002186326,0.0003660226,0.0001621525,0.0004183225,0.001556422],"category_scores_gemma":[0.0004131059,0.0001985311,0.0002680013,0.0002724524,0.0004648644,0.0002483828,0.000357212,0.0003465483,0.0002503457],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002334312,"about_ca_system_score_gemma":0.0001461308,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003992797,"about_ca_topic_score_gemma":0.0006863824,"domain_scores_codex":[0.9997595,0.00004352116,0.00002220441,0.00009182141,0.00004934124,0.00003361506],"domain_scores_gemma":[0.9997172,0.000112053,0.0001094068,0.00002502443,0.00001028444,0.00002605148],"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":[0.0002287158,0.00005585291,0.06120324,0.0000978596,0.00008850529,0.01357927,0.0002753317,0.0008408274,0.9084727,0.0008550028,0.00009560143,0.01420712],"study_design_scores_gemma":[0.0001427671,0.00126481,0.5307333,0.0000434022,0.0003004894,0.165445,0.000345224,0.00429254,0.2905931,0.001380093,0.00539653,0.00006276138],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967979,0.0005070215,0.00206526,0.00003371687,0.000003054474,0.00001664028,0.00006581804,0.00003537668,0.0004753427],"genre_scores_gemma":[0.9985614,0.0001881126,0.0008817139,0.00001579074,0.000006443271,0.000007248123,0.000075314,0.000007256762,0.0002566813],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001556422,"threshold_uncertainty_score":0.005206764,"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."}}