{"id":"W2085410738","doi":"10.1111/j.1399-0004.2002.tb02255.x","title":"Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features","year":2002,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Health Sciences Centre; Manitoba Health","funders":"","keywords":"Subtelomere; Karyotype; Biology; Genetics; Chromosome; Cytogenetics; Fluorescence in situ hybridization; Gene","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":[0.0001362224,0.0001894225,0.0001716737,0.0000374393,0.00005986675,0.0000280874,0.0001373713,0.000177578,0.00005504655],"category_scores_gemma":[0.00007133419,0.0001737032,0.00003735211,0.0001086629,0.0001347429,0.000003660796,0.0001105225,0.0001447173,0.0000124585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001096207,"about_ca_system_score_gemma":0.00001261333,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002648276,"about_ca_topic_score_gemma":0.0000280578,"domain_scores_codex":[0.9986081,0.0001110291,0.0003517141,0.0004793183,0.0001985121,0.0002513514],"domain_scores_gemma":[0.9994684,0.00001711227,0.00009491864,0.0002500133,0.0000515701,0.0001179974],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001699672,0.0005589877,0.9210715,0.00002004096,0.00007590934,0.000002604484,0.00005687101,0.00001023071,0.05246205,8.804366e-7,0.006788903,0.01878209],"study_design_scores_gemma":[0.002638654,0.001234446,0.9860502,0.0000153752,0.00002035855,0.000001451828,0.000015361,0.0000790488,0.004744139,0.00001161925,0.004922331,0.0002670333],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980335,0.001150785,0.00001358549,0.0001088199,0.0001216079,0.0003375669,0.00003260141,0.000007877445,0.0001936706],"genre_scores_gemma":[0.9962587,0.002089207,0.0006226794,0.0003175469,0.00001957228,0.0000129338,0.0003221748,0.00003072445,0.0003264596],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06497873,"threshold_uncertainty_score":0.7083409,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01437324552419473,"score_gpt":0.2456484422443707,"score_spread":0.231275196720176,"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."}}