{"id":"W4366830948","doi":"10.1002/ccr3.6632","title":"Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report","year":2023,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Chromosomal and Genetic Variations","field":"Agricultural and Biological Sciences","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; Children's Hospital of Eastern Ontario; University of Toronto; SickKids Foundation; Ontario Genomics; University of Ottawa; Hospital for Sick Children","funders":"","keywords":"Supernumerary; Karyotype; Ring chromosome; Small supernumerary marker chromosome; Genetics; Chromosome; Medicine; Biology; Gene; Anatomy","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":[0.000778638,0.000165936,0.0005516608,0.00004523621,0.00009392597,0.00001348434,0.00007139041,0.0001361135,0.00007962369],"category_scores_gemma":[0.0005648424,0.00008838706,0.0002331733,0.0008517628,0.0001973578,0.0000869,0.0001848694,0.000187031,0.00000627419],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003385589,"about_ca_system_score_gemma":0.00004721424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003589119,"about_ca_topic_score_gemma":0.001545955,"domain_scores_codex":[0.9967144,0.0001902899,0.001984034,0.000669057,0.0001926563,0.0002495504],"domain_scores_gemma":[0.9980249,0.0005316405,0.0008655821,0.0002485123,0.0001771169,0.0001522634],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00001802877,0.0001437782,0.7522351,0.00002561246,0.00002759729,0.1991926,0.000166695,0.00007528655,0.04520058,0.000009952513,0.000006084879,0.002898659],"study_design_scores_gemma":[0.0002067697,0.0002168713,0.7812498,0.00004283753,0.00004448026,0.2113537,0.001619172,0.0002170171,0.003829565,0.000849405,0.0001852191,0.0001851831],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987944,0.0001655379,2.793372e-7,0.0001765821,0.0002839137,0.0003941017,0.00006133335,0.00005141738,0.0000724254],"genre_scores_gemma":[0.9993262,0.00003013404,0.0001068813,0.00002359706,0.0002226363,0.00002352765,0.0002287213,0.000002805103,0.000035478],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04137102,"threshold_uncertainty_score":0.5425698,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07678969918826606,"score_gpt":0.314728736355863,"score_spread":0.237939037167597,"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."}}