{"id":"W4394855695","doi":"10.1186/s13039-024-00677-1","title":"Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium","year":2024,"lang":"en","type":"article","venue":"Molecular Cytogenetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Myriad Genetics","keywords":"Trisomy; Medicine; Obstetrics; Aneuploidy; Cohort; Pregnancy; Human genetics; Cell-free fetal DNA; Retrospective cohort study; Prenatal diagnosis; Gynecology; Fetus; Biology; Pathology; Genetics; Chromosome","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":[0.001191881,0.000319445,0.0004011318,0.001408439,0.0003876715,0.0006260488,0.0003546904,0.0004785061,0.0009106182],"category_scores_gemma":[0.007576955,0.0001294751,0.0003127193,0.000864299,0.0006001659,0.0003827939,0.001229198,0.0003063053,0.000216644],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003705888,"about_ca_system_score_gemma":0.0002980917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00305355,"about_ca_topic_score_gemma":0.003411907,"domain_scores_codex":[0.9989138,0.0002659371,0.00012516,0.0002139923,0.0002923844,0.0001887966],"domain_scores_gemma":[0.9965461,0.00110513,0.0009388348,0.0003203939,0.0004925905,0.0005969692],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009519038,0.00001147098,0.9947083,0.000009077011,0.00002118179,0.002224273,0.0001756143,0.00007617896,0.0003895435,0.00001364327,0.00017097,0.002104515],"study_design_scores_gemma":[0.000007061555,0.000113787,0.9849739,0.00001317507,0.00003452976,0.01365537,0.0003811695,0.0001707359,0.0003031422,0.00004369015,0.0002919385,0.00001155185],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986489,0.0001922049,0.00009507169,0.00003229578,0.000003260293,0.00001125548,0.0003607271,0.000006596495,0.0006496742],"genre_scores_gemma":[0.9990931,0.0000794541,0.0000808776,0.00001560733,0.000006209637,0.00001118659,0.0006485567,0.000006417246,0.00005876473],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00305355,"threshold_uncertainty_score":0.00630337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0459439774710249,"score_gpt":0.3519394442164315,"score_spread":0.3059954667454066,"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."}}