{"id":"W2614643166","doi":"10.1159/000460248","title":"Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study","year":2017,"lang":"en","type":"article","venue":"Fetal Diagnosis and Therapy","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston General Hospital; University of Toronto; Queen's University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Ion semiconductor sequencing; Trisomy; Medicine; Genetics; DNA sequencing; Biology; 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":[0.002560183,0.0005903032,0.0002941248,0.0004801123,0.0001803472,0.0005302042,0.0007102496,0.0006347392,0.001036313],"category_scores_gemma":[0.003630841,0.0002203967,0.0003211706,0.0001689871,0.0005532064,0.000422777,0.0005803173,0.0004096787,0.0004032214],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002609673,"about_ca_system_score_gemma":0.0006928391,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005868655,"about_ca_topic_score_gemma":0.0005569087,"domain_scores_codex":[0.9976953,0.0008579922,0.00007823145,0.0003125986,0.000952817,0.000103099],"domain_scores_gemma":[0.9987864,0.0006580354,0.000124741,0.0001244807,0.0002056554,0.0001007138],"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":[0.001035821,0.0005764653,0.03299737,0.0002546661,0.00006718312,0.001989343,0.0003156663,0.002569452,0.8782043,0.001355002,0.0003359589,0.08029884],"study_design_scores_gemma":[0.000462026,0.01863198,0.06403606,0.0000724011,0.0002889398,0.03253135,0.0004280665,0.07196703,0.7981519,0.001092474,0.01218218,0.0001554644],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.714767,0.0008174634,0.2804222,0.0003541702,0.00004015459,0.000937825,0.000187124,0.0003340953,0.002140029],"genre_scores_gemma":[0.6864128,0.0005933378,0.3109209,0.0001330209,0.0000358995,0.0005042166,0.0003634588,0.00004378218,0.0009925873],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002560183,"threshold_uncertainty_score":0.01353973,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05295578014208013,"score_gpt":0.3166284279410271,"score_spread":0.2636726477989469,"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."}}