{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002805343,0.000857564,0.0007084129,0.000894518,0.0005452865,0.001093813,0.002077217,0.001725554,0.007320619],"category_scores_gemma":[0.01127098,0.0005014486,0.001180469,0.0005378356,0.0007012181,0.0008178206,0.001531252,0.001253556,0.0009923886],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001039253,"about_ca_system_score_gemma":0.001828827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008740206,"about_ca_topic_score_gemma":0.008386943,"domain_scores_codex":[0.999207,0.0003831442,0.00004706977,0.0001250913,0.0001732673,0.00006442682],"domain_scores_gemma":[0.9959299,0.003310782,0.0001471362,0.0002127308,0.0002223842,0.0001771266],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0004960407,0.0001458226,0.01364308,0.0002494985,0.0001945532,0.0006748657,0.0002294042,0.9078009,0.003581574,0.02013948,0.01369797,0.03914693],"study_design_scores_gemma":[0.0001171631,0.00006705883,0.0004499884,0.0000289484,0.00003193279,0.0001617508,0.00002253551,0.9793641,0.001839997,0.01132482,0.006570613,0.00002118372],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"methods","genre_gemma":"software","genre_scores_codex":[0.1163142,0.0009089046,0.8282821,0.002517299,0.0006891271,0.0004308936,0.005276686,0.03209217,0.01348853],"genre_scores_gemma":[0.5910361,0.0006655296,0.3941987,0.001003539,0.0001317306,0.0005283711,0.005587317,0.003204939,0.003643659],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.008740206,"threshold_uncertainty_score":0.02448988,"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."}}