{"id":"W1998059747","doi":"10.1016/j.ejmg.2008.10.007","title":"Unusual 8p inverted duplication deletion with telomere capture from 8q","year":2008,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"Vlaamse regering; Universiteit Gent; Fonds Wetenschappelijk Onderzoek","keywords":"Gene duplication; Biology; Telomere; Genetics; Inverted repeat; Chromosome; Gene rearrangement; Gene; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002064345,0.001461624,0.001084456,0.002220087,0.0009679086,0.0006108339,0.001477277,0.002885408,0.005637475],"category_scores_gemma":[0.001686541,0.000565053,0.0008660647,0.0013512,0.0009044239,0.000557887,0.00110315,0.001329617,0.0008021188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000511391,"about_ca_system_score_gemma":0.0003595381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001384897,"about_ca_topic_score_gemma":0.001149613,"domain_scores_codex":[0.9995223,0.00004441634,0.00004233422,0.0001674871,0.00009463222,0.0001288835],"domain_scores_gemma":[0.9988772,0.0005334868,0.0002390555,0.0001048406,0.00006219766,0.0001832252],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002987375,0.00004856033,0.006920418,0.00004322425,0.00003584441,0.9504716,0.0001941326,0.0002230667,0.03718582,0.0005012398,0.0004374062,0.003639845],"study_design_scores_gemma":[0.00005414155,0.000117268,0.02354876,0.000007026654,0.00007251665,0.9638475,0.00009281808,0.0004301482,0.009897003,0.0004757382,0.001435598,0.00002147089],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9848914,0.001127739,0.00413712,0.001095156,0.0001799094,0.00007598857,0.0008667113,0.0002729682,0.007353064],"genre_scores_gemma":[0.9957108,0.0002163378,0.001415273,0.0002176162,0.0001937338,0.00002747273,0.0002906508,0.00003230892,0.001895678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005637475,"threshold_uncertainty_score":0.01885921,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01207497103565711,"score_gpt":0.2095560974082064,"score_spread":0.1974811263725493,"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."}}