{"id":"W1517689472","doi":"10.1002/pd.4127","title":"Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma","year":2013,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":201,"is_retracted":false,"has_abstract":true,"ca_institutions":"North York General Hospital","funders":"","keywords":"Cell-free fetal DNA; Massive parallel sequencing; False positive rate; Prenatal diagnosis; Karyotype; Aneuploidy; Fetus; Cohort; Chromosome; Obstetrics; DNA sequencing; Medicine; Biology; Pregnancy; Genetics; Gynecology; DNA; Internal medicine; Gene; Computer science","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":[0.001296556,0.0004715549,0.0002798708,0.0006477223,0.000102885,0.0003593454,0.0002791207,0.000456703,0.0005284635],"category_scores_gemma":[0.00546096,0.0001729574,0.0001423634,0.000245783,0.0001977154,0.0001798408,0.0002066493,0.0003276633,0.0002165036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001458944,"about_ca_system_score_gemma":0.0001998743,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008546521,"about_ca_topic_score_gemma":0.0008789531,"domain_scores_codex":[0.9988737,0.0004073287,0.00005493791,0.0003086033,0.0003224391,0.00003306789],"domain_scores_gemma":[0.9980469,0.001285343,0.0002751157,0.0001632465,0.0001780793,0.00005136064],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00082191,0.000115452,0.7500679,0.0001274859,0.0001674992,0.0003128052,0.0003202188,0.002790833,0.1394647,0.000141644,0.0005357965,0.1051337],"study_design_scores_gemma":[0.0001504137,0.002105824,0.766737,0.0001238136,0.000256697,0.007286349,0.000222803,0.06919553,0.1503921,0.0006550194,0.002825752,0.00004852995],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9750346,0.000673927,0.0230216,0.00007690432,0.00001372254,0.00005242298,0.0004376495,0.0001510484,0.0005381425],"genre_scores_gemma":[0.9695808,0.0004494421,0.02867034,0.00009309331,0.00002068984,0.00005474365,0.0006666169,0.00001637157,0.0004479844],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001296556,"threshold_uncertainty_score":0.006856918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01216474132837002,"score_gpt":0.2127611926486894,"score_spread":0.2005964513203194,"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."}}