{"id":"W2021380950","doi":"10.1002/ajmg.a.32427","title":"Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital","funders":"","keywords":"Chromosomal translocation; Monosomy; Gene duplication; Genetics; Biology; Robertsonian translocation; Trisomy; Chromosome; Gene; Karyotype; Molecular biology","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":[0.0002306861,0.001707108,0.0006103113,0.001416789,0.0008923099,0.0006511438,0.0005955694,0.001230001,0.001900263],"category_scores_gemma":[0.002346536,0.0006200892,0.000454107,0.0008496435,0.001226408,0.0004041812,0.0008177921,0.0006120644,0.0003942457],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000645657,"about_ca_system_score_gemma":0.0003883376,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001648385,"about_ca_topic_score_gemma":0.001126857,"domain_scores_codex":[0.9995776,0.00004275704,0.0000593032,0.0001515096,0.00006980385,0.00009896038],"domain_scores_gemma":[0.9992892,0.0002153129,0.000162598,0.0000547086,0.00007232114,0.0002059085],"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":[0.0006236521,0.0003146675,0.3065629,0.00007618433,0.00008087404,0.6261711,0.002787106,0.0006310806,0.0476759,0.0004342587,0.0005187337,0.01412352],"study_design_scores_gemma":[0.0001030071,0.0009087832,0.1633199,0.00001463256,0.00009708651,0.8261249,0.0006618512,0.0006031905,0.006234915,0.0003075089,0.001573267,0.00005088015],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987499,0.0001464866,0.0004354225,0.0001115433,0.000009390141,0.00002568531,0.00005259027,0.00001389691,0.0004550953],"genre_scores_gemma":[0.9987504,0.0001115573,0.0004824704,0.00006592133,0.00001446831,0.00001870057,0.00008450117,0.000007134081,0.0004646822],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001900263,"threshold_uncertainty_score":0.006357014,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009864563272038593,"score_gpt":0.2432219437331737,"score_spread":0.2333573804611351,"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."}}