{"id":"W3116604881","doi":"10.1002/humu.24163","title":"GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases","year":2020,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome British Columbia; Michael Smith Health Research BC; Genome Canada","keywords":"Biology; Mendelian inheritance; Computational biology; Disease; Genetics; Genomics; Prioritization; Personalized medicine; Genetic testing; Population; Precision medicine; Gene; Bioinformatics; Genome; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00002680762,0.00008934703,0.00007753984,0.00001917291,0.00009154664,0.00002210859,0.0001160862,0.00003749173,0.00003728195],"category_scores_gemma":[0.00006868481,0.00007152857,0.00006927909,0.00006728398,0.00002372177,0.000002700446,0.00005368336,0.00002104035,0.000008814906],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006619573,"about_ca_system_score_gemma":0.00003398843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001779873,"about_ca_topic_score_gemma":0.00001070529,"domain_scores_codex":[0.9993784,0.00003758854,0.0001723129,0.0002189935,0.00009501167,0.00009768656],"domain_scores_gemma":[0.9995521,0.00001235975,0.00007737835,0.0001751953,0.00008610091,0.00009689476],"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":[0.000270128,0.0002583734,0.01311432,0.0001663867,0.000228373,0.00003629176,0.001850718,0.2548155,0.6872891,0.0003958843,0.003900349,0.03767452],"study_design_scores_gemma":[0.002766643,0.002926037,0.7031628,0.00005168213,0.000648375,0.00001368483,0.001342751,0.02919927,0.2314963,0.001883067,0.02538777,0.001121556],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995669,0.0004929855,0.002841409,0.0004185573,0.00004960524,0.0003191786,0.0001497326,0.000008627472,0.00005091201],"genre_scores_gemma":[0.9983927,0.0000223219,0.0002106607,0.0007784137,0.00022837,0.00005803932,0.0002750123,0.00001558866,0.00001886771],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6900485,"threshold_uncertainty_score":0.291685,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01473811897275492,"score_gpt":0.2640244176973632,"score_spread":0.2492862987246083,"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."}}