{"id":"W2549899067","doi":"10.14785/lymphosign-2016-0011","title":"Whole exome and genome sequencing for Mendelian immune disorders: from molecular diagnostics to new disease variant and gene discovery","year":2016,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Ontario Genomics","funders":"Hospital for Sick Children","keywords":"Exome sequencing; Exome; Mendelian inheritance; Computational biology; Biology; Genome; Genetics; DNA sequencing; Whole genome sequencing; Genomics; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.003078823,0.0006574083,0.00108798,0.003078425,0.0003353882,0.001905053,0.0006527291,0.001492647,0.003383859],"category_scores_gemma":[0.003964776,0.0003947024,0.0008564338,0.002818593,0.0008665167,0.002539011,0.001341415,0.001850524,0.001492452],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008247332,"about_ca_system_score_gemma":0.0009433514,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009848318,"about_ca_topic_score_gemma":0.001667249,"domain_scores_codex":[0.999054,0.0002939537,0.00010312,0.0002136551,0.000275806,0.00005935795],"domain_scores_gemma":[0.9978784,0.001369377,0.0001910608,0.000125562,0.0002866571,0.0001488831],"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":[0.0004269131,0.00004735605,0.006896937,0.005032525,0.000453623,0.001535644,0.0003458684,0.001104807,0.0265437,0.01859741,0.05155478,0.8874605],"study_design_scores_gemma":[0.00008401956,0.0002324164,0.02566999,0.004523848,0.0004380969,0.01182478,0.0004309502,0.002055437,0.0162329,0.06074591,0.8775743,0.000187343],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01598149,0.8946772,0.05638895,0.01772714,0.002367694,0.0001352108,0.00354673,0.0006339593,0.008541581],"genre_scores_gemma":[0.04328595,0.8296153,0.09972135,0.0111694,0.003410165,0.000227897,0.005074325,0.0002680529,0.007227556],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003383859,"threshold_uncertainty_score":0.01628256,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007107602807530526,"score_gpt":0.2106209277071404,"score_spread":0.2035133248996098,"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."}}