{"id":"W4367595746","doi":"10.1097/01.ogx.0000935836.78364.35","title":"Impact of Variation in Practice in the Prenatal Reporting of Variants of Uncertain Significance by Commercial Laboratories: Need for Greater Adherence to Published Guidelines","year":2023,"lang":"en","type":"article","venue":"Obstetrical & Gynecological Survey","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Exome sequencing; Medicine; Copy-number variation; Clinical significance; Aneuploidy; Genetic testing; Exome; Microarray; Prenatal diagnosis; Trisomy; Medical genetics; Bioinformatics; Genetics; Pregnancy; Phenotype; Fetus; Pathology; Chromosome; Gene; Internal medicine; Biology; Genome","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.004916592,0.0001502105,0.000693206,0.0001837348,0.0000254484,0.00001932903,0.00025721,0.0002074194,0.00003115665],"category_scores_gemma":[0.642189,0.0000920075,0.00009670947,0.003818465,0.00006688724,0.0001499963,0.00009286899,0.000228182,0.000001524746],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001232259,"about_ca_system_score_gemma":0.000283467,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008351702,"about_ca_topic_score_gemma":0.0002555326,"domain_scores_codex":[0.9964058,0.0006490482,0.001854967,0.0003175675,0.0004481891,0.0003244184],"domain_scores_gemma":[0.9621055,0.03499718,0.001202128,0.0003104986,0.001275208,0.000109517],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001228621,0.0006275782,0.9850641,0.00008565285,0.00005086006,0.00005311828,0.0005409124,0.0009101859,0.002377999,0.00007019895,0.003644951,0.005345836],"study_design_scores_gemma":[0.001118274,0.002520031,0.9944888,0.0001077607,0.00002878133,0.000001799621,0.0001690457,0.001037706,0.0003310055,0.00005807132,0.00004315477,0.00009560793],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966246,0.0001130938,0.0008021718,0.000601764,0.0001337375,0.001006103,0.0005312697,0.00002228124,0.0001649435],"genre_scores_gemma":[0.9972518,0.00001728906,0.002274242,0.0001194096,0.00003105301,0.00008560008,0.0001953718,0.000009065134,0.00001614333],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6372724,"threshold_uncertainty_score":0.9982518,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1346858666582378,"score_gpt":0.4149095241614667,"score_spread":0.2802236575032289,"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."}}