{"id":"W4399731236","doi":"10.1101/2024.06.14.24308832","title":"Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Nova Scotia Health Authority; Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"Exome sequencing; Meta-analysis; Exome; Cohort; Medicine; Cohort study; Computational biology; Data science; Computer science; Genetics; Internal medicine; Biology; Mutation; Gene","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":[0.04377969,0.00202173,0.005183451,0.002756053,0.0004935389,0.003384724,0.001621299,0.001201978,0.001896079],"category_scores_gemma":[0.07361422,0.0008504153,0.01859718,0.003218533,0.0005838063,0.001378502,0.001510835,0.001909238,0.0004066929],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005044306,"about_ca_system_score_gemma":0.001357003,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002747538,"about_ca_topic_score_gemma":0.003336796,"domain_scores_codex":[0.9637166,0.02660786,0.003163153,0.004373858,0.001666659,0.0004719998],"domain_scores_gemma":[0.9082944,0.070891,0.004319064,0.01339976,0.002607208,0.0004885951],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.006099981,0.00005876243,0.1454244,0.008929867,0.795024,0.0005058125,0.0001712559,0.00580566,0.003632114,0.0007019384,0.00350694,0.03013932],"study_design_scores_gemma":[0.001605629,0.0009802347,0.1395417,0.002902237,0.8149766,0.0008376191,0.0002457064,0.01528475,0.004030846,0.007546258,0.0118436,0.0002047366],"study_design_candidate":"meta_analysis","study_design_consensus":"meta_analysis","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4646732,0.3459911,0.1450808,0.007576756,0.002788992,0.0008095828,0.02813027,0.001566887,0.003382462],"genre_scores_gemma":[0.9665065,0.008629371,0.01708976,0.001531325,0.0003898142,0.0002750937,0.004862632,0.0002853498,0.0004301282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04377969,"threshold_uncertainty_score":0.2315319,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1312980618354275,"score_gpt":0.3172791121129672,"score_spread":0.1859810502775397,"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."}}