{"id":"W2587099115","doi":"10.1111/cge.12987","title":"Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing","year":2017,"lang":"en","type":"review","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":146,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; BC Children's Hospital; Memorial University of Newfoundland; Alberta Children's Hospital; McGill University; Children's Hospital of Eastern Ontario; University of Calgary; University of British Columbia; Hospital for Sick Children; University of Ottawa","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute; Genome Canada","keywords":"Occam's razor; occam; Exome sequencing; Exome; Genetics; Biology; Computational biology; Computer science; Mutation; Gene; Programming language; Mathematics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003680214,0.0007702747,0.001861222,0.0001377927,0.0002538523,0.0002184145,0.001228309,0.000990052,0.00000952587],"category_scores_gemma":[0.001588384,0.0007138106,0.001166857,0.0001152637,0.0004220219,0.0000054485,0.0007840805,0.0004992702,0.00005311609],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008929241,"about_ca_system_score_gemma":0.0009572699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003064236,"about_ca_topic_score_gemma":0.00009684431,"domain_scores_codex":[0.9954977,0.0004059135,0.001735193,0.001372221,0.0002493332,0.0007396379],"domain_scores_gemma":[0.996594,0.0003859192,0.000845705,0.001636747,0.0001030147,0.0004346679],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001485267,0.0002581469,0.01269717,0.002255952,0.0002256974,0.0001176431,0.00001451693,0.00004887509,0.0001063809,9.447812e-7,0.003179686,0.9810801],"study_design_scores_gemma":[0.0006051022,0.0001918394,0.001683637,0.002502094,0.0006203114,0.00002657279,0.0000243595,0.00005994608,0.00002114871,0.0000378081,0.9933181,0.0009090294],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02268241,0.9745101,0.00009534038,0.00001326694,0.0008688736,0.0007943594,0.0009273858,0.00002357871,0.00008464215],"genre_scores_gemma":[0.00717529,0.988535,0.0007371091,0.0001817023,0.001101799,0.0001313131,0.001700502,0.0001716271,0.0002656764],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9901385,"threshold_uncertainty_score":0.9995313,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1265496536664215,"score_gpt":0.4190270198233153,"score_spread":0.2924773661568938,"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."}}