{"id":"W2591417052","doi":"10.1186/s12920-017-0247-4","title":"Genomic newborn screening: public health policy considerations and recommendations","year":2017,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":146,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; University of British Columbia; McGill Genome Centre; University of British Columbia Hospital; Child and Family Research Institute","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; BC Children's Hospital; Vlaamse regering; Fondation Brocher; Sultan Qaboos University; University of Cape Town; Genome British Columbia; Genome Canada; McGill University; National Institutes of Health; Uppsala Universitet; Case Western Reserve University","keywords":"Human genetics; Public health; Genomic medicine; Public health policy; Newborn screening; Computational biology; Biology; Genetics; Medicine; Health policy; Bioinformatics; Gene; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004432528,0.0001427119,0.0001696526,0.00006021811,0.0009299151,0.0002255542,0.0002910511,0.0001400877,0.00009462202],"category_scores_gemma":[0.001618797,0.0001426814,0.00007477825,0.00002077948,0.0002531481,0.000006987417,0.0003951765,0.0001019254,0.00001210618],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003350046,"about_ca_system_score_gemma":0.002653057,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002139193,"about_ca_topic_score_gemma":0.001182525,"domain_scores_codex":[0.9988208,0.00008516307,0.0002855744,0.0003504414,0.00011871,0.0003392838],"domain_scores_gemma":[0.9984176,0.00004712457,0.0001869511,0.0006060246,0.00005903427,0.0006832519],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001807375,0.001015815,0.09326782,0.0002971318,0.000798957,0.00006501197,0.001347871,0.0001162921,0.02793304,0.08730406,0.1226843,0.6649889],"study_design_scores_gemma":[0.001700025,0.0001851221,0.06668655,0.00002525144,0.00001988715,0.0002150426,0.0003610452,0.0008417698,0.0002371856,0.001639997,0.9276547,0.0004334391],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8270293,0.002970661,0.06054965,0.1054428,0.0005089386,0.0005720409,0.0003656172,0.00003988641,0.002521081],"genre_scores_gemma":[0.960184,0.002481241,0.0298931,0.005612645,0.001018947,0.00002203423,0.0003606173,0.00003476612,0.0003926425],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8049704,"threshold_uncertainty_score":0.7152249,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06012573499563081,"score_gpt":0.3408859735178257,"score_spread":0.2807602385221949,"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."}}