{"id":"W2246559112","doi":"10.1038/nprot.2015.124","title":"Next-generation diagnostics and disease-gene discovery with the Exomiser","year":2015,"lang":"en","type":"article","venue":"Nature Protocols","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":466,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Institutes of Health","keywords":"Exome; Sanger sequencing; Computational biology; Exome sequencing; Computer science; Suite; DNA sequencing; Genetics; Biology; Gene; Bioinformatics; Mutation","routes":{"ca_aff":true,"ca_fund":false,"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":[0.002817535,0.00107224,0.001096056,0.0009594361,0.0005913805,0.001876377,0.001055383,0.001602534,0.01026262],"category_scores_gemma":[0.002558042,0.001068194,0.0008324245,0.0006778105,0.00070007,0.00159908,0.002203488,0.003381316,0.003378569],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003992363,"about_ca_system_score_gemma":0.0006101144,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001686952,"about_ca_topic_score_gemma":0.0006046834,"domain_scores_codex":[0.9987202,0.0003254844,0.00008358125,0.0003459243,0.000416121,0.0001087306],"domain_scores_gemma":[0.9991258,0.0005162308,0.00006408615,0.0001633366,0.00005663939,0.00007393541],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001374715,0.0001611612,0.003206557,0.001000294,0.000381371,0.0008549371,0.000272882,0.002488673,0.6738214,0.05993757,0.04564385,0.2108566],"study_design_scores_gemma":[0.0003450793,0.0003510492,0.002911897,0.000162044,0.0001735727,0.002472894,0.00005859042,0.02707887,0.612211,0.04047114,0.3135994,0.0001644149],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.07308145,0.01922164,0.822033,0.007910163,0.0029106,0.0006747358,0.01512711,0.02118214,0.03785916],"genre_scores_gemma":[0.2038671,0.009948294,0.721724,0.006054324,0.0008234244,0.002010199,0.01900912,0.002623533,0.03393997],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01026262,"threshold_uncertainty_score":0.03433186,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02664112301437988,"score_gpt":0.2800315199897486,"score_spread":0.2533903969753687,"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."}}