{"id":"W4380203577","doi":"10.1186/s13039-023-00642-4","title":"Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray","year":2023,"lang":"en","type":"article","venue":"Molecular Cytogenetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; North York General Hospital","funders":"","keywords":"Copy-number variation; Aneuploidy; Microarray; Cell-free fetal DNA; Human genetics; Medicine; Prenatal diagnosis; Bioinformatics; Obstetrics; Biology; Genetics; Pregnancy; Fetus; Genome; Chromosome; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006605789,0.0005507095,0.0005228377,0.002371718,0.0003006574,0.001160781,0.0005191475,0.001036025,0.002058299],"category_scores_gemma":[0.02157479,0.00023699,0.0005740758,0.0009958707,0.000602803,0.000727237,0.00052182,0.0005687252,0.0009680475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007561215,"about_ca_system_score_gemma":0.0004565794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002025631,"about_ca_topic_score_gemma":0.0009279644,"domain_scores_codex":[0.9928751,0.00250114,0.0005129034,0.001815785,0.002022535,0.0002725797],"domain_scores_gemma":[0.9846047,0.01107034,0.001481356,0.0006967168,0.001850933,0.000295942],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001854556,0.0001112432,0.9123209,0.0002205183,0.0003125335,0.00041545,0.0003626416,0.001422937,0.0257428,0.00030644,0.001238629,0.05569141],"study_design_scores_gemma":[0.00005956491,0.002771585,0.8902181,0.000166576,0.0004875961,0.006794232,0.0003669858,0.01384268,0.08060257,0.0006840881,0.003918527,0.00008747096],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9654692,0.01058057,0.01313375,0.0007897164,0.0002674526,0.00008702088,0.001019523,0.0004391256,0.008213501],"genre_scores_gemma":[0.9951586,0.0005550559,0.003150489,0.0001914923,0.00007324456,0.0000381697,0.0003455586,0.00002424997,0.0004631986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006605789,"threshold_uncertainty_score":0.03493518,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01617387542506861,"score_gpt":0.2784313343108998,"score_spread":0.2622574588858312,"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."}}