{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002245892,0.0003395181,0.0003976075,0.002146439,0.0004197091,0.0007761059,0.0003631659,0.0005600621,0.001583172],"category_scores_gemma":[0.00851346,0.0002509137,0.0002819228,0.001333835,0.0005244791,0.000262511,0.0007574286,0.0002816853,0.0006589649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003817134,"about_ca_system_score_gemma":0.0002754277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009624583,"about_ca_topic_score_gemma":0.001159784,"domain_scores_codex":[0.9969093,0.0007440762,0.0004362741,0.0006931512,0.0009978975,0.0002192965],"domain_scores_gemma":[0.9967709,0.001547919,0.0008132012,0.0003133221,0.0004502815,0.0001044844],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006297312,0.00006969994,0.9168773,0.0002163386,0.000188751,0.002054635,0.0004366053,0.0005765455,0.05339831,0.0003567653,0.0007727274,0.0244225],"study_design_scores_gemma":[0.000074498,0.0002967057,0.9409164,0.0001154809,0.000195191,0.01331568,0.0004122408,0.003526409,0.03279282,0.0004898122,0.007838091,0.0000267909],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939438,0.001018346,0.002678332,0.000092845,0.00001300889,0.00007447645,0.001129041,0.00003206683,0.001018194],"genre_scores_gemma":[0.9926683,0.0004077736,0.004275281,0.0001358454,0.0000160824,0.00007396403,0.002022341,0.00002064277,0.0003798136],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002245892,"threshold_uncertainty_score":0.01187754,"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."}}