{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001085334,0.0004003163,0.0005753742,0.0001427126,0.0001593372,0.00009056174,0.000348249,0.0002607701,0.0003853278],"category_scores_gemma":[0.0008966054,0.0003788521,0.0002029704,0.0002121362,0.0001681011,0.0005307145,0.0003779481,0.0003904532,0.0001211386],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001946954,"about_ca_system_score_gemma":0.00008313626,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008966903,"about_ca_topic_score_gemma":0.00010778,"domain_scores_codex":[0.9975122,0.00007767682,0.0006260721,0.0006057846,0.0006273161,0.0005509706],"domain_scores_gemma":[0.997583,0.0009747632,0.0003297486,0.000603325,0.0001810783,0.0003281109],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001986551,0.0005890787,0.3967108,0.001454147,0.0005529699,0.0006068134,0.002347465,0.0004051102,0.5566456,0.00002014574,0.002972056,0.0374972],"study_design_scores_gemma":[0.001893529,0.0004113577,0.03170295,0.0009965923,0.0001982285,0.0001648058,0.0004051677,0.003921027,0.959703,0.0001957796,0.00004062847,0.0003669845],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953839,0.001053552,0.0004067927,0.0001078099,0.0002902176,0.0006757159,0.0009204704,0.0002239983,0.0009375782],"genre_scores_gemma":[0.9969409,0.0001732998,0.001663235,0.00008819777,0.0002621562,0.000346494,0.0003512014,0.00006875585,0.0001058308],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4030573,"threshold_uncertainty_score":0.9998664,"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."}}