{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004964476,0.0001506669,0.0004287764,0.00003723768,0.0000383254,0.00001583526,0.0001697183,0.0001679987,0.00003221449],"category_scores_gemma":[0.0002175767,0.0001481591,0.000067374,0.0001283694,0.0002751379,0.000009157618,0.0002196657,0.0001816067,0.000004690301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007174915,"about_ca_system_score_gemma":0.0001382039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003352965,"about_ca_topic_score_gemma":0.0001874709,"domain_scores_codex":[0.9979008,0.0004133385,0.0007770731,0.0005926474,0.00008382758,0.000232245],"domain_scores_gemma":[0.9990482,0.00006692834,0.0001687063,0.0004283025,0.0001358074,0.0001520176],"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":[0.000432513,0.0005997447,0.1897042,0.00004329369,0.0001009991,0.00126647,0.0001022846,0.00007952507,0.7997784,0.001180149,0.00002310917,0.00668931],"study_design_scores_gemma":[0.00424881,0.00246374,0.9383229,0.00009811064,0.00006919502,0.001951402,0.0001625198,0.0002810901,0.04377269,0.0003555777,0.007690069,0.0005838757],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962104,0.0000717337,0.002646799,0.0004287658,0.0002349331,0.0001533181,0.0001314184,0.000005883958,0.0001167761],"genre_scores_gemma":[0.9935997,0.00006056667,0.004208319,0.001018067,0.0001451072,0.00001568614,0.00087133,0.00001799722,0.00006327405],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7560057,"threshold_uncertainty_score":0.6041751,"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."}}