{"id":"W1972398685","doi":"10.1016/j.ejmg.2010.08.007","title":"Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation","year":2010,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Chromosomal and Genetic Variations","field":"Agricultural and Biological Sciences","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Queen's University","funders":"Coordenação de Aperfeiçoamento de Pessoal de Nível Superior","keywords":"Telomere; Biology; Fluorescence in situ hybridization; Breakpoint; Comparative genomic hybridization; Chromosome; Genetics; Chromosome 18; Bacterial artificial chromosome; Molecular biology; DNA; 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":[0.001015397,0.00009953969,0.0001487057,0.00002724104,0.00007457877,0.00002951357,0.0003622919,0.00006689782,0.0004004674],"category_scores_gemma":[0.0004205318,0.0000457184,0.0001040562,0.0001973779,0.00006579181,0.00004820998,0.00006657831,0.0002829713,0.00001465447],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007358994,"about_ca_system_score_gemma":0.00003836042,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004024447,"about_ca_topic_score_gemma":0.00003514667,"domain_scores_codex":[0.9981309,0.0002131558,0.0006698003,0.0001000439,0.0007364939,0.0001495892],"domain_scores_gemma":[0.9989188,0.00008976771,0.0004215116,0.00005493831,0.0003072121,0.0002077332],"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":[0.00001110282,0.00006096369,0.001477586,0.000007922421,0.000009725701,0.00005291582,0.00009468173,0.00009940138,0.5970136,0.00005202199,0.00004432275,0.4010758],"study_design_scores_gemma":[0.003577194,0.005843054,0.5052691,0.0007975024,0.0005087572,0.00598106,0.0009355545,0.03828785,0.3600266,0.001606448,0.07605113,0.001115708],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952677,0.0002283354,0.002620325,0.001255277,0.0002440661,0.00006493953,0.00000585249,0.00000809126,0.0003053768],"genre_scores_gemma":[0.9949866,0.0001406269,0.004061284,0.0001276158,0.0006542724,4.600828e-7,0.00001467125,0.000002110351,0.0000123905],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5037915,"threshold_uncertainty_score":0.4384837,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01649358759049534,"score_gpt":0.2363020635841314,"score_spread":0.2198084759936361,"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."}}