{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001645239,0.0001717159,0.0001632232,0.00008176392,0.00007807148,0.00007113437,0.0001992717,0.000131385,0.0001077814],"category_scores_gemma":[0.0001248066,0.0001686549,0.0001885088,0.0001123673,0.00005207397,0.00002289984,0.0001275971,0.00005967287,0.00001414531],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005203499,"about_ca_system_score_gemma":0.0001106884,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006039176,"about_ca_topic_score_gemma":0.00001307571,"domain_scores_codex":[0.9989094,0.00003334161,0.0003123768,0.000377561,0.0001255302,0.0002417647],"domain_scores_gemma":[0.9994012,0.0001016813,0.00007355247,0.0002583953,0.0001023779,0.00006278927],"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":[0.0004159116,0.001183546,0.1037666,0.01528462,0.003045338,0.00006072556,0.006068882,0.01267579,0.7904363,0.01764703,0.01317301,0.03624232],"study_design_scores_gemma":[0.0002611779,0.0002372445,0.001469063,0.0001817002,0.00007537566,0.00001107792,0.0001318986,0.0002409897,0.9886681,0.0004146758,0.008070271,0.0002383856],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919894,0.003068942,0.002270052,0.0001684931,0.000325862,0.0004383576,0.001379196,0.0000368919,0.0003228237],"genre_scores_gemma":[0.9953374,0.0006691765,0.001045774,0.00004460622,0.0003197084,0.001151594,0.001146429,0.00003498724,0.0002503632],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1982319,"threshold_uncertainty_score":0.6877549,"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."}}