{"id":"W2775815727","doi":"10.1002/humu.23374","title":"Evaluation of exome filtering techniques for the analysis of clinically relevant genes","year":2017,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics Institute; Family Process Institute; Genome Canada","keywords":"Exome; Exome sequencing; OMIM : Online Mendelian Inheritance in Man; In silico; Computational biology; Biology; Phenotype; Genetics; Genetic heterogeneity; Gene; Bioinformatics","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":[0.009401822,0.001117771,0.00067279,0.001999541,0.0005681266,0.001269465,0.0007270332,0.0008285851,0.001898098],"category_scores_gemma":[0.02325871,0.000269757,0.0009190176,0.001480402,0.0003367717,0.0007626452,0.0007438003,0.0004910507,0.0005134357],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004483855,"about_ca_system_score_gemma":0.0009647594,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002309412,"about_ca_topic_score_gemma":0.003412897,"domain_scores_codex":[0.9969928,0.001341515,0.0003396065,0.0004918087,0.0006895545,0.0001447481],"domain_scores_gemma":[0.9821331,0.0145261,0.0007510154,0.001061089,0.001319883,0.000208852],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.003518631,0.000580493,0.1343786,0.001122652,0.001383165,0.0009725517,0.0007172241,0.05548252,0.1751027,0.002916499,0.003562716,0.6202623],"study_design_scores_gemma":[0.0003740083,0.001696768,0.2049903,0.0002353428,0.001035501,0.004349659,0.0005318222,0.5857747,0.1835772,0.004842692,0.01241706,0.0001750455],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5415566,0.002206688,0.4461493,0.0006001728,0.0001012077,0.0005674675,0.003139311,0.003266924,0.002412264],"genre_scores_gemma":[0.5157125,0.0008219589,0.4778687,0.0001887111,0.00005363144,0.000365383,0.003722788,0.0003228409,0.0009434831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009401822,"threshold_uncertainty_score":0.04972219,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07346428011081418,"score_gpt":0.4027673567636988,"score_spread":0.3293030766528846,"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."}}