{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003176988,0.0001214386,0.0001424211,0.00003829571,0.00008377922,0.00001464121,0.0003262734,0.00008383174,0.0001047077],"category_scores_gemma":[0.00007998768,0.00009252958,0.00006324151,0.00007313388,0.0001230161,0.000004269881,0.00006891666,0.0002041367,0.00001864835],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001203194,"about_ca_system_score_gemma":0.0002235286,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001125281,"about_ca_topic_score_gemma":0.00001005608,"domain_scores_codex":[0.9986646,0.0001972028,0.0003729981,0.0001473869,0.0004755341,0.0001423335],"domain_scores_gemma":[0.9991571,0.00001183959,0.0002279808,0.0001919803,0.0002013802,0.0002097719],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002301866,0.002085589,0.175742,0.0001583924,0.002648675,0.004317014,0.01034882,0.00505293,0.5370135,0.0008286635,0.09927426,0.1602283],"study_design_scores_gemma":[0.01066002,0.005193183,0.3669875,0.0003494477,0.000382369,0.007979283,0.002372633,0.001259512,0.1441437,0.0001985527,0.459087,0.001386819],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9832667,0.001230611,0.01359776,0.0007477414,0.0001393058,0.00004603444,0.00001273545,0.000005228684,0.0009539313],"genre_scores_gemma":[0.9944093,0.00120602,0.002697658,0.0005358502,0.0008467477,6.763869e-7,0.00006619798,0.00002500477,0.0002125282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3928698,"threshold_uncertainty_score":0.3773247,"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."}}