{"id":"W3096990517","doi":"10.1038/s41436-020-01005-9","title":"Impact of integrated translational research on clinical exome sequencing","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":false,"ca_institutions":"Princess Margaret Cancer Centre","funders":"","keywords":"Exome sequencing; Medicine; Exome; Genetic testing; Disease; Medical genetics; Internal medicine; Phenotype; Genetics; Biology; Gene","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":[0.000603459,0.00009281068,0.0001912785,0.00007382307,0.00002178294,0.000002941729,0.0001792034,0.0001098244,0.0001045058],"category_scores_gemma":[0.000480419,0.00006979654,0.00008171522,0.0002155179,0.0002160165,6.414101e-7,0.00003727105,0.0002005008,0.00000445761],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001880403,"about_ca_system_score_gemma":0.0003487697,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000471885,"about_ca_topic_score_gemma":0.00001848858,"domain_scores_codex":[0.9988188,0.0001401863,0.0003755865,0.0002663274,0.0002217118,0.0001774434],"domain_scores_gemma":[0.9993923,0.00006734126,0.00004922662,0.0001895036,0.0001562574,0.0001454011],"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":[0.001138247,0.0002271109,0.4201531,0.00006031537,0.0001538302,0.00005893333,0.0006191946,0.008087441,0.5501537,0.0001813299,0.007083877,0.01208295],"study_design_scores_gemma":[0.007341949,0.02197651,0.9159744,0.000287615,0.00006407213,0.00002327319,0.001512726,0.007519759,0.02796325,0.001817092,0.01492479,0.0005946051],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972089,0.001170963,0.0001784534,0.0005109683,0.00006608794,0.0001284638,0.00004824935,0.000002571133,0.0006853244],"genre_scores_gemma":[0.9980116,0.0007091391,0.0004136552,0.0002682329,0.0003983424,0.000003473145,0.0001620988,0.00001312498,0.00002028376],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5221905,"threshold_uncertainty_score":0.284622,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2294506975230856,"score_gpt":0.4860190483867198,"score_spread":0.2565683508636342,"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."}}