{"id":"W4391282555","doi":"10.1002/pd.6525","title":"Validation of low‐pass genome sequencing for prenatal diagnosis","year":2024,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; University of Toronto; Mount Sinai Hospital","funders":"","keywords":"Workflow; Concordance; Turnaround time; Prenatal diagnosis; Computational biology; Scalability; Microarray; Computer science; Bioinformatics; Medicine; Genetics; Biology; Database; Gene; Fetus; Pregnancy","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":[0.01427992,0.001048505,0.0005814756,0.001085673,0.0004639697,0.001197277,0.001054681,0.001165018,0.002067877],"category_scores_gemma":[0.02327516,0.0003165111,0.0007604459,0.0006206607,0.00108105,0.0006823972,0.001154354,0.000602171,0.0009644746],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008050914,"about_ca_system_score_gemma":0.001554402,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002332949,"about_ca_topic_score_gemma":0.002522971,"domain_scores_codex":[0.9870516,0.005802521,0.0006551454,0.001761187,0.004357445,0.0003721214],"domain_scores_gemma":[0.9851604,0.008399984,0.001368025,0.001519512,0.00321689,0.000335115],"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":[0.001193331,0.000227476,0.09609457,0.0009508981,0.0004276837,0.0005425027,0.00060303,0.006747741,0.7944651,0.002036341,0.001058304,0.095653],"study_design_scores_gemma":[0.0001030319,0.002532719,0.1638864,0.0002721649,0.0007440859,0.002644285,0.0002782941,0.05220251,0.7616625,0.001376356,0.01419356,0.0001041751],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.739352,0.002537348,0.2500169,0.0005025483,0.0001936153,0.0006139197,0.001698125,0.001134028,0.003951597],"genre_scores_gemma":[0.8442745,0.0008021726,0.1500041,0.0003852932,0.00004599639,0.0004264904,0.002653849,0.0001432634,0.001264353],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01427992,"threshold_uncertainty_score":0.07552034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0128131934541959,"score_gpt":0.2401289212401716,"score_spread":0.2273157277859757,"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."}}