{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.05335485,0.002325189,0.002299418,0.005256557,0.004088132,0.01311331,0.0106328,0.07118198,0.02714822],"category_scores_gemma":[0.159198,0.001121842,0.003356389,0.003501245,0.00894073,0.01233655,0.009633997,0.03380924,0.006439905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007838077,"about_ca_system_score_gemma":0.06275263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02830942,"about_ca_topic_score_gemma":0.02430977,"domain_scores_codex":[0.9578666,0.02420229,0.003566049,0.002409322,0.007459117,0.004496573],"domain_scores_gemma":[0.8523579,0.09153545,0.004777829,0.003273514,0.03078072,0.01727457],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001483617,0.0003715971,0.001924457,0.001384031,0.0001075396,0.001236673,0.0009029288,0.00177154,0.0002635779,0.06114775,0.8533329,0.07740861],"study_design_scores_gemma":[0.0006040952,0.0002066056,0.003649207,0.0241286,0.0004733645,0.001006601,0.007022984,0.002594024,0.0005874298,0.2162158,0.7432083,0.0003029007],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.0002377525,0.003985406,0.000962361,0.9867127,0.003099415,0.00009423972,0.0001744055,0.00007591738,0.0046579],"genre_scores_gemma":[0.007211062,0.01153075,0.01097616,0.9606428,0.004103331,0.000718684,0.0004001578,0.00004376411,0.00437319],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.07118198,"threshold_uncertainty_score":0.2821708,"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."}}