{"id":"W4407593828","doi":"10.1002/pd.6759","title":"Use of Clinically Informed Strategies and Diagnostic Yields of Genetic Testing for Fetal Structural Anomalies Following a Non‐Diagnostic Microarray Result: A Population‐Based Cohort Study","year":2025,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Capital District Health Authority; Dalhousie University","funders":"Genome Canada","keywords":"Exome sequencing; Genetic testing; Medicine; Microarray; Microarray analysis techniques; Exome; Bioinformatics; Pathology; Genetics; Biology; Internal medicine; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.002524233,0.0002785196,0.0002341122,0.0008266041,0.0004133685,0.0006900083,0.0006860446,0.0005733764,0.001085272],"category_scores_gemma":[0.01746149,0.0002102961,0.0003668512,0.0008847058,0.000382171,0.0004439504,0.0006609118,0.0004010354,0.0001573234],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001389099,"about_ca_system_score_gemma":0.00171714,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07625625,"about_ca_topic_score_gemma":0.0742541,"domain_scores_codex":[0.9977804,0.0005159862,0.000167759,0.0004970072,0.0007996295,0.0002392482],"domain_scores_gemma":[0.9948013,0.00154997,0.002128797,0.0005164936,0.0007580179,0.000245497],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000598987,0.00001337537,0.9977841,0.000004621584,0.00003367875,0.0000899717,0.0000807065,0.00006204178,0.0001705124,0.00001617296,0.00007923544,0.001605755],"study_design_scores_gemma":[0.000005262352,0.00006055374,0.9986083,0.000007267713,0.00002953107,0.0004563312,0.0001573877,0.0003630106,0.0001543885,0.00002159065,0.0001293568,0.000007066178],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998841,0.000162246,0.0001271932,0.0000667568,0.000002359678,0.00001217833,0.0004900869,0.000003433894,0.000294843],"genre_scores_gemma":[0.9994702,0.00007629301,0.0001432685,0.00001971539,0.000002392499,0.000007556488,0.0002325782,0.000002201418,0.00004576867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07625625,"threshold_uncertainty_score":0.1516248,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03609374608417845,"score_gpt":0.3226499247260625,"score_spread":0.286556178641884,"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."}}