{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0018261,0.0008893869,0.001405231,0.004478063,0.0004095954,0.00158391,0.001730316,0.001881626,0.001468517],"category_scores_gemma":[0.002658458,0.0002901824,0.0005143005,0.002676187,0.001247759,0.001942312,0.0009777453,0.002494389,0.001241333],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001346091,"about_ca_system_score_gemma":0.002457424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003031653,"about_ca_topic_score_gemma":0.005099555,"domain_scores_codex":[0.9994349,0.0001046459,0.0001047824,0.00009289779,0.0002140523,0.00004874517],"domain_scores_gemma":[0.9984061,0.000672347,0.00019404,0.00004430424,0.0005329142,0.0001502627],"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":[0.00006147569,0.00001935538,0.0008358153,0.008580623,0.0001367003,0.001440609,0.00008198442,0.0002208317,0.0006255796,0.003118934,0.05864866,0.9262294],"study_design_scores_gemma":[0.00002232267,0.00005641447,0.002821297,0.01063382,0.0002572303,0.01841312,0.0002491268,0.0001859439,0.0006184692,0.004713031,0.961982,0.00004733313],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001294023,0.9969674,0.000296206,0.001253827,0.0005615723,0.000003880521,0.0000175092,0.000010568,0.0007596467],"genre_scores_gemma":[0.001064189,0.9965736,0.0003702013,0.0007288987,0.0006144074,0.00000454294,0.00004043645,0.000004493371,0.0005993634],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004478063,"threshold_uncertainty_score":0.009766638,"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."}}