{"id":"W4388823585","doi":"10.1155/2023/9127430","title":"A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening","year":2023,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"","keywords":"Gene duplication; Copy-number variation; Medicine; SNP array; Microarray; Cell-free fetal DNA; Prenatal diagnosis; Germline; Genetics; Microdeletion syndrome; Karyotype; Chromosome; Fetus; Bioinformatics; Biology; Gene; Single-nucleotide polymorphism; Pregnancy; Genome; Genotype","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":[0.0003325626,0.0001019482,0.0001185637,0.0001144731,0.00004743064,0.00002015478,0.00005867825,0.0001132826,0.000004531801],"category_scores_gemma":[0.0001702965,0.0001127056,0.00006073193,0.0002058293,0.00004542594,0.000004134871,0.0003088001,0.00007238571,0.000001253432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001254445,"about_ca_system_score_gemma":0.00004335234,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006725677,"about_ca_topic_score_gemma":0.0001263518,"domain_scores_codex":[0.9989238,0.00004224634,0.0003101687,0.0003233668,0.0001853856,0.0002149807],"domain_scores_gemma":[0.9992892,0.00002839169,0.00008566666,0.0004643795,0.00005907454,0.00007335346],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004243078,0.00007033776,0.5100278,0.0003202725,0.00005484635,0.01737759,0.0001247786,0.0005504963,0.4159608,0.000002388061,0.0004586325,0.05500966],"study_design_scores_gemma":[0.0004825744,0.000182196,0.04861769,0.00007719082,0.00003051777,0.00620022,0.0000917142,0.001919124,0.9406977,0.00009018589,0.001399066,0.0002117873],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976096,0.001710849,0.0002064172,0.00001859811,0.0000726926,0.0002689782,0.00001891771,0.00001276998,0.00008120907],"genre_scores_gemma":[0.9982798,0.0005243169,0.0008244502,0.000006536233,0.00005049421,0.00007263525,0.00009048375,0.00002284911,0.000128413],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5247369,"threshold_uncertainty_score":0.4596,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01600104743879946,"score_gpt":0.2873680349943746,"score_spread":0.2713669875555751,"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."}}