{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001459559,0.0000705536,0.00007667622,0.00001341595,0.00009073505,0.00001793926,0.00007105985,0.0001964636,0.00002008036],"category_scores_gemma":[0.001389744,0.0000667866,0.00009059898,0.00007458506,0.00001760188,8.589648e-7,0.00004771047,0.00009086182,0.000001051622],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004235476,"about_ca_system_score_gemma":0.000111182,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":5.515923e-7,"about_ca_topic_score_gemma":0.000002010336,"domain_scores_codex":[0.9994863,0.00007015136,0.000077542,0.0002128919,0.00003256786,0.0001205138],"domain_scores_gemma":[0.9994211,0.00008360404,0.00002845507,0.0001942937,0.0002220008,0.00005054495],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00000944297,0.00002607012,0.000356548,0.00001904593,0.00003358758,0.000007444211,0.000005520217,0.00001288848,0.9812556,0.0007242083,0.006671881,0.01087775],"study_design_scores_gemma":[0.0003322715,0.00006541341,0.005206155,0.000009177348,0.00004022887,0.00006214908,0.00006320951,0.00005464327,0.6096261,0.002900956,0.3814815,0.0001581706],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.7393686,0.04566147,0.1879659,0.001595621,0.002905713,0.0007606536,0.001343195,0.00008256922,0.02031619],"genre_scores_gemma":[0.373504,0.0000168584,0.6227072,0.001310211,0.0004519214,0.00003777972,0.0007550723,0.00001958212,0.001197444],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.4347413,"threshold_uncertainty_score":0.2723479,"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."}}