{"id":"W2152428337","doi":"10.1002/1096-8628(2001)9999:9999<::aid-ajmg1173>3.0.co;2-1","title":"Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)","year":2001,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Vancouver General Hospital; British Columbia Children's Hospital","funders":"","keywords":"Trisomy; Medicine; Aneuploidy; Internal medicine; Genetics; Biology; Chromosome; Gene","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":[0.0005186749,0.0001486312,0.0003678125,0.00009756166,0.00003034904,0.00001161154,0.0004082811,0.0001231648,0.0002348508],"category_scores_gemma":[0.0002006866,0.0001283484,0.0001549037,0.000225823,0.0002951501,0.000003779419,0.0001042393,0.0002411567,0.000002595074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000263589,"about_ca_system_score_gemma":0.0004432456,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006339146,"about_ca_topic_score_gemma":0.00008470212,"domain_scores_codex":[0.9981253,0.000148348,0.0007379481,0.0001652919,0.0005476705,0.0002754103],"domain_scores_gemma":[0.9988385,0.00003443346,0.0004567562,0.0002200322,0.0001752039,0.0002751043],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001239408,0.001596824,0.4375713,0.0001215343,0.0007885916,0.0004268596,0.003585931,0.00136034,0.03431704,0.0002207848,0.006111878,0.5126595],"study_design_scores_gemma":[0.01354867,0.02031481,0.1662962,0.0008345757,0.0005810792,0.00453851,0.02269917,0.00132504,0.1034744,0.0007009275,0.6636928,0.001993719],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931394,0.003952097,0.001557053,0.0007242637,0.000227315,0.00006741245,0.00001567422,0.000001792814,0.0003150176],"genre_scores_gemma":[0.9928656,0.004697539,0.001596566,0.0002871756,0.0004022236,0.000003401688,0.00001066623,0.00001661845,0.0001202299],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.657581,"threshold_uncertainty_score":0.5233896,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01056525997444642,"score_gpt":0.2683721303692899,"score_spread":0.2578068703948435,"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."}}