{"id":"W3181973054","doi":"10.1038/s41436-021-01230-w","title":"Neptune: an environment for the delivery of genomic medicine","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"National Center for Advancing Translational Sciences; National Human Genome Research Institute; Broad Institute; Children's Hospital of Philadelphia; Vanderbilt University Medical Center; University of Washington; National Institutes of Health; Cincinnati Children's Hospital Medical Center; Brigham and Women's Hospital; Kaiser Permanente; Northwestern University; Vanderbilt University","keywords":"Workflow; Neptune; Precision medicine; Genomics; Personalized medicine; Personalization; Data science; Pharmacogenomics; Computer science; Bioinformatics; Computational biology; World Wide Web; Biology; Genome; Genetics; Database; Gene; Planet","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":[0.007233178,0.0004613026,0.000560586,0.0009484278,0.0009964658,0.003911866,0.001468287,0.002535178,0.09318841],"category_scores_gemma":[0.02016962,0.0005674996,0.0006238537,0.0007346629,0.00117249,0.003502601,0.007177674,0.004480738,0.03287159],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001035722,"about_ca_system_score_gemma":0.003700206,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005612013,"about_ca_topic_score_gemma":0.001389251,"domain_scores_codex":[0.9970595,0.001147539,0.0001323757,0.0003040478,0.001048076,0.0003083388],"domain_scores_gemma":[0.9826609,0.007579762,0.001000118,0.001985864,0.001368023,0.00540532],"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":[0.001465799,0.0001916342,0.001351027,0.000744434,0.00006618163,0.001616862,0.001125172,0.0004972339,0.01058251,0.05096566,0.6469733,0.2844201],"study_design_scores_gemma":[0.0001571053,0.00009195958,0.0008004639,0.0001901782,0.00001701842,0.0008876947,0.00009952489,0.0004659279,0.001884195,0.01307578,0.9822949,0.00003514994],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"other","genre_gemma":"methods","genre_scores_codex":[0.01447056,0.02376159,0.2887567,0.1588303,0.01942457,0.001139796,0.008631194,0.05425581,0.4307296],"genre_scores_gemma":[0.120399,0.0266083,0.3832922,0.04786161,0.009843869,0.002816323,0.008282705,0.02204386,0.3788521],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.09318841,"threshold_uncertainty_score":0.3117463,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01885577131526222,"score_gpt":0.2690018554158493,"score_spread":0.2501460841005871,"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."}}