{"id":"W2895710019","doi":"10.1016/j.cell.2018.08.016","title":"Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History","year":2018,"lang":"en","type":"article","venue":"Cell","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":314,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of General Medical Sciences; Medical Research Council; Innovationsfonden; Lundbeckfonden; Natural Science Foundation of Guangdong Province; Wellcome Trust; Howard Hughes Medical Institute","keywords":"Biology; Genome-wide association study; Genetics; Population; Genetic association; Genotype; Single-nucleotide polymorphism; Gene; Medicine","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":[0.00005550939,0.0000920343,0.0001800275,0.0000768093,0.0000542565,0.000006197056,0.00003631646,0.00006770736,0.00003211838],"category_scores_gemma":[0.0006903018,0.00008450225,0.00003768473,0.00006295941,0.00003560703,0.00004940057,0.00004437214,0.0000846687,0.00001098414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001374756,"about_ca_system_score_gemma":0.00005934148,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006646923,"about_ca_topic_score_gemma":0.0002011413,"domain_scores_codex":[0.9993854,0.00003070788,0.0002115625,0.000162012,0.0001068022,0.0001035449],"domain_scores_gemma":[0.9992183,0.0003103825,0.0001648537,0.0001463402,0.00009143177,0.00006869066],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00001138369,0.0000565245,0.9667591,0.00004194857,0.0000253881,0.000004644971,0.0002021394,0.00002929288,0.03179917,4.520367e-7,0.0002546528,0.0008153396],"study_design_scores_gemma":[0.0005587688,0.0002249927,0.9916424,0.00009551663,0.0001455134,0.000004499431,0.00001650413,0.001037549,0.006116162,0.00005813384,0.00001986288,0.00008012361],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99749,0.0007698743,0.0006179754,0.00001104118,0.0001392105,0.0001225247,0.00009397089,0.00002665522,0.0007287286],"genre_scores_gemma":[0.9950714,0.0000288914,0.004039791,0.00005704695,0.0003647231,0.000004116639,0.0002607802,0.00001173561,0.0001615773],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02568301,"threshold_uncertainty_score":0.9999679,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02644102063511954,"score_gpt":0.2776452456943124,"score_spread":0.2512042250591928,"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."}}