{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002651857,0.0002041587,0.0004448407,0.00005298895,0.0002438254,0.00005547057,0.0001671149,0.0001469236,0.00004088205],"category_scores_gemma":[0.0009119408,0.000159179,0.0001256876,0.00006932105,0.0002167846,0.0001780644,0.00009016577,0.0002392566,0.000003109288],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006503403,"about_ca_system_score_gemma":0.00006185586,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007518149,"about_ca_topic_score_gemma":0.0000764274,"domain_scores_codex":[0.9987375,0.00007063162,0.0003083828,0.0004014374,0.0002647448,0.0002172672],"domain_scores_gemma":[0.9986277,0.000252984,0.000231861,0.0005949124,0.0001141657,0.0001784009],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001121394,0.002699157,0.7977552,0.00006646458,0.0002387631,0.00009292836,0.0003386217,6.66839e-7,0.1512454,0.00001315075,0.0004615184,0.04596675],"study_design_scores_gemma":[0.005641825,0.004840226,0.5564163,0.0001664945,0.0001082727,0.00005402969,0.0002254294,0.00004741925,0.4318172,0.00009623591,0.0003631823,0.0002234608],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953538,0.002717325,0.00004775063,0.0001578799,0.0001330728,0.001165734,0.0001249667,0.00006206534,0.0002374656],"genre_scores_gemma":[0.998237,0.001230707,0.0001331179,0.0000648025,0.00008916852,0.0001559425,0.00002803147,0.00002110664,0.00004018028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2805718,"threshold_uncertainty_score":0.6491132,"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."}}