{"id":"W3194537089","doi":"10.1097/mcd.0000000000000382","title":"Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism","year":2021,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Alberta Children's Hospital; University of Alberta; University of Calgary","funders":"","keywords":"Medicine; Ring chromosome; Genetics; Chromosome; Karyotype; Gene; 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":[0.0003688911,0.0008706531,0.0004813736,0.001077465,0.000577227,0.0004646128,0.0004762634,0.001461686,0.002185746],"category_scores_gemma":[0.002891497,0.0005498876,0.000600256,0.0003856538,0.000668944,0.0003130725,0.0009089022,0.0009189611,0.0005280073],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004098104,"about_ca_system_score_gemma":0.0003236586,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001585283,"about_ca_topic_score_gemma":0.001354102,"domain_scores_codex":[0.9994901,0.00006319751,0.00006859619,0.0001675813,0.0001366278,0.00007381551],"domain_scores_gemma":[0.9991195,0.0002189248,0.000186954,0.00008828555,0.00008136909,0.0003049873],"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":[0.0002160818,0.0001491238,0.06705312,0.00006799977,0.00004853203,0.8975047,0.001330104,0.0001284887,0.02827977,0.0003200635,0.0005214206,0.004380538],"study_design_scores_gemma":[0.00003591825,0.0003280556,0.06137422,0.000009951736,0.00002938005,0.9338068,0.0002241496,0.0002381361,0.002923115,0.0001244687,0.0008917475,0.00001405009],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974438,0.0003701375,0.0006078907,0.0002348204,0.00005902054,0.00003778352,0.0001496127,0.00002218712,0.001074837],"genre_scores_gemma":[0.9978149,0.0001590937,0.0004712307,0.0001354016,0.00006443433,0.0000131476,0.000139267,0.00001414592,0.001188379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002185746,"threshold_uncertainty_score":0.007312,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02552254320334941,"score_gpt":0.3193714900185117,"score_spread":0.2938489468151623,"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."}}