{"id":"W1951586704","doi":"10.1034/j.1399-0004.2001.590211.x","title":"Recombinant Down syndrome: a case report and literature review","year":2001,"lang":"en","type":"review","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":76,"is_retracted":false,"has_abstract":true,"ca_institutions":"Credit Valley Hospital","funders":"","keywords":"dup; Trisomy; Down syndrome; Chromosomal inversion; Karyotype; Chromosome 21; Genetics; Biology; Pediatrics; Chromosome; Gene duplication; Medicine; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007842443,0.000460431,0.001479101,0.00004506134,0.0001057814,0.00006972425,0.0002564323,0.0008592788,0.00004484115],"category_scores_gemma":[0.0003351377,0.0003654938,0.0006501206,0.0002160292,0.0001393588,0.000002281784,0.0003622992,0.0004566423,0.00002562162],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001463582,"about_ca_system_score_gemma":0.000281936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002613273,"about_ca_topic_score_gemma":0.00000639474,"domain_scores_codex":[0.9967658,0.0003350036,0.001646035,0.0008292482,0.0001122495,0.0003116839],"domain_scores_gemma":[0.9978642,0.00007146553,0.0006173925,0.001071921,0.0001411417,0.0002338955],"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":[0.000004636044,0.000161285,0.00008170852,0.03163034,0.0004143045,0.1146353,0.000009315847,1.748391e-7,3.236469e-7,0.00003000174,0.01544006,0.8375925],"study_design_scores_gemma":[0.00009916748,0.0002040608,0.000005024303,0.01094388,0.0006058775,0.3505925,0.000003375308,2.735026e-7,2.871997e-7,0.00001841832,0.6372449,0.0002823026],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003902604,0.9975401,0.00002183431,0.00005443392,0.0007016985,0.000695234,0.0001126454,0.0000129202,0.0004709309],"genre_scores_gemma":[0.00002148512,0.9903222,0.0007947182,0.0002785796,0.0004617099,0.00008528047,0.0011135,0.00006170019,0.006860841],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.8373102,"threshold_uncertainty_score":0.9998797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04883958977348798,"score_gpt":0.3744497161792347,"score_spread":0.3256101264057467,"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."}}