{"id":"W4385423177","doi":"10.1002/ccr3.7732","title":"An uninformative <scp>NIPT</scp> as an early indicator of cri‐du‐chat due to a chromosomal 5;18 translocation—An atypical presentation of a rare cytogenetic phenomenon","year":2023,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Chromosomal translocation; Medicine; Karyotype; SNP array; SNP; Microarray; Prenatal diagnosis; Genetics; Chromosome; Bioinformatics; Single-nucleotide polymorphism; Biology; Pregnancy; Fetus; 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":[0.0007004188,0.0001936375,0.0003788706,0.0001162034,0.000109041,0.00003238556,0.0001558896,0.0002678672,0.00005392324],"category_scores_gemma":[0.0003799926,0.0001912765,0.0001507083,0.0002544347,0.0001755757,0.00004504802,0.00008320936,0.0001156798,0.00001330287],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001651145,"about_ca_system_score_gemma":0.0003353716,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001381295,"about_ca_topic_score_gemma":0.0000686813,"domain_scores_codex":[0.9974844,0.0002563109,0.001264621,0.0004798906,0.0002464764,0.0002682778],"domain_scores_gemma":[0.9980264,0.00008298014,0.0005252762,0.0007047972,0.0002819336,0.0003786654],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00197448,0.007723625,0.4732176,0.001059965,0.001642609,0.02024839,0.07086462,0.006531868,0.3817172,0.00271401,0.002095262,0.03021034],"study_design_scores_gemma":[0.00303772,0.01897284,0.5946205,0.0001261496,0.0003759954,0.01394011,0.02177878,0.00136664,0.3400617,0.001552817,0.00344847,0.0007182839],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982647,0.00004742846,0.0005992004,0.00003574932,0.0001615808,0.0004803332,0.0001116709,0.00003154968,0.0002678328],"genre_scores_gemma":[0.9979775,0.00003889673,0.0006526478,0.00008505656,0.0002714563,0.0000722445,0.0007661352,0.00002941911,0.0001066665],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1214029,"threshold_uncertainty_score":0.7800028,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03282373077016032,"score_gpt":0.3377469492300204,"score_spread":0.30492321845986,"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."}}