{"id":"W2338328727","doi":"10.1097/mcd.0000000000000125","title":"Partial monosomy 1q43 and partial trisomy 20q13.2: a case report","year":2016,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Medicine; Partial Trisomy; Monosomy; Trisomy; Library science; Family medicine; Pediatrics; Genetics; Karyotype; Chromosome; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0005932627,0.0036879,0.002163669,0.005631888,0.003524391,0.002447534,0.002463548,0.007825919,0.005591049],"category_scores_gemma":[0.004015073,0.003295613,0.001906301,0.003972206,0.003231262,0.003077411,0.004093725,0.003860707,0.001912275],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00190504,"about_ca_system_score_gemma":0.001055325,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003513328,"about_ca_topic_score_gemma":0.00392999,"domain_scores_codex":[0.9988029,0.0001055054,0.0001263054,0.0003316486,0.0002177927,0.0004158683],"domain_scores_gemma":[0.9978947,0.0007093432,0.0004133389,0.0002040303,0.00009351332,0.0006850437],"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":[0.00001235156,0.00001169313,0.001156435,0.00001156252,0.000005426094,0.9977513,0.00006024171,0.00002293996,0.0003768295,0.00008007176,0.0001069374,0.0004041071],"study_design_scores_gemma":[0.00000633965,0.00001378928,0.001320216,0.000004435821,0.00000516387,0.9982269,0.00004663733,0.00004441131,0.00009694033,0.00006618256,0.000163627,0.000005341999],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9671263,0.008664998,0.002935985,0.004545669,0.0005049587,0.0002399001,0.0004863231,0.0003109518,0.01518494],"genre_scores_gemma":[0.9920517,0.002084202,0.00171873,0.0007589755,0.001124522,0.0000546602,0.0001628886,0.00004080989,0.002003297],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007825919,"threshold_uncertainty_score":0.01870388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02947815658301711,"score_gpt":0.3163382890107707,"score_spread":0.2868601324277536,"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."}}