{"id":"W3134349788","doi":"10.1038/s41592-021-01089-4","title":"Testing for rare conditions","year":2021,"lang":"en","type":"article","venue":"Nature Methods","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre","funders":"","keywords":"Computational biology; Computer science; Biology; Chemistry","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":[0.00360183,0.0009105083,0.0008289883,0.002799227,0.0008282642,0.001895453,0.001384653,0.002145301,0.01252991],"category_scores_gemma":[0.01610393,0.0003978399,0.001025978,0.001030886,0.000909893,0.0008139776,0.001839475,0.001390029,0.004009057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006270697,"about_ca_system_score_gemma":0.001298049,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001544898,"about_ca_topic_score_gemma":0.001555166,"domain_scores_codex":[0.9956473,0.001185089,0.0003020434,0.0009182891,0.001461598,0.0004857181],"domain_scores_gemma":[0.9927672,0.004133702,0.0005702232,0.0009423073,0.0009970029,0.0005896409],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001404101,0.0003633281,0.2617672,0.001181462,0.0004475328,0.009258855,0.001087997,0.001263782,0.05017886,0.02868616,0.07736737,0.5669933],"study_design_scores_gemma":[0.0005500548,0.00165617,0.1568174,0.002581168,0.001240378,0.09098613,0.001693664,0.01452713,0.1353253,0.09047977,0.5039091,0.0002338174],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.4366157,0.03709236,0.2695928,0.03887164,0.00666735,0.001666939,0.03233832,0.007241047,0.1699139],"genre_scores_gemma":[0.8308113,0.00683999,0.1096216,0.01472237,0.002258855,0.001444861,0.01135362,0.0005945044,0.02235285],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.01252991,"threshold_uncertainty_score":0.04191673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02245227681672893,"score_gpt":0.3971899892007806,"score_spread":0.3747377123840516,"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."}}