{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002099137,0.0006300636,0.0003816803,0.001324332,0.0004858185,0.0003452679,0.0004602822,0.001367808,0.001873131],"category_scores_gemma":[0.002604197,0.000381275,0.0002360179,0.0005160194,0.0007317457,0.0004214732,0.0006701461,0.0006971618,0.0002950105],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003474279,"about_ca_system_score_gemma":0.0004225037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001229509,"about_ca_topic_score_gemma":0.001342299,"domain_scores_codex":[0.9997031,0.00003069888,0.00002490751,0.00009512441,0.00007887663,0.00006718207],"domain_scores_gemma":[0.9993109,0.0003332316,0.0001413731,0.00004055393,0.00003682996,0.0001371801],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00005322238,0.00001266567,0.02922391,0.0000232648,0.000006284404,0.9597963,0.000225207,0.00008578764,0.005878929,0.0002772184,0.0001949729,0.004222133],"study_design_scores_gemma":[0.00000460625,0.00005832714,0.009317959,0.000008152818,0.000009738495,0.9877325,0.00006727551,0.0002005037,0.002026642,0.0001370957,0.0004325862,0.000004615414],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910299,0.001084985,0.003434252,0.0008780547,0.0000851656,0.00004997569,0.0001803215,0.0001120433,0.00314519],"genre_scores_gemma":[0.9978326,0.0003875654,0.001160483,0.0001112926,0.00007024405,0.0000107815,0.00004691184,0.000007577492,0.0003726034],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001873131,"threshold_uncertainty_score":0.006266236,"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."}}