{"id":"W3001725108","doi":"10.1038/s41436-020-0749-x","title":"Mobile element insertion detection in 89,874 clinical exomes","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; B.C. Women's Hospital & Health Centre","funders":"","keywords":"Exome sequencing; Exome; DNA sequencing; Genetic testing; Confidence interval; Genetics; Computational biology; Medicine; Biology; Bioinformatics; Gene; Mutation; Internal medicine","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":[0.0002803699,0.000105016,0.0001705872,0.00004767868,0.00001808422,0.000004316526,0.0001240848,0.0001122056,0.00003379868],"category_scores_gemma":[0.0001514918,0.00009505676,0.00004070492,0.000125625,0.00006802312,0.000001059407,0.00007595238,0.0001090372,0.000007407905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001465856,"about_ca_system_score_gemma":0.00004425991,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000019007,"about_ca_topic_score_gemma":0.0001784805,"domain_scores_codex":[0.9989092,0.00007022913,0.0004200986,0.0003213891,0.0001125278,0.0001665498],"domain_scores_gemma":[0.9995955,0.000009785968,0.00006310468,0.0001843884,0.00003695903,0.0001102293],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005831436,0.0004413906,0.2587128,0.0001097994,0.00005329938,0.00007659182,0.001243167,0.002401035,0.5670792,0.00002161908,0.003142429,0.1661355],"study_design_scores_gemma":[0.01045883,0.01048881,0.5172876,0.0001392533,0.00009295985,0.00002278942,0.004814691,0.00763726,0.1258097,0.0004677652,0.3218775,0.0009028825],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925489,0.005916941,0.0005956396,0.0003379932,0.0002027174,0.0002339008,0.000004186012,0.000005785291,0.0001539464],"genre_scores_gemma":[0.99178,0.006163287,0.0002589195,0.001087815,0.0005668659,0.00003469395,0.00006460202,0.00001366517,0.00003010864],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4412696,"threshold_uncertainty_score":0.3876302,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02972764006553845,"score_gpt":0.3332264010506493,"score_spread":0.3034987609851108,"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."}}