{"id":"W2043433501","doi":"10.1016/j.jaci.2013.01.042","title":"Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation","year":2013,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":154,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; McGill University; McGill University and Génome Québec Innovation Centre","funders":"","keywords":"Missense mutation; Biology; Exome sequencing; Immunodeficiency; Primary immunodeficiency; Exome; Mutation; Genetics; Immunology; T cell; Severe combined immunodeficiency; Immune system; 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":[0.0002780477,0.001214601,0.0004226064,0.001085393,0.001126627,0.0008007159,0.0006950513,0.001666237,0.002435982],"category_scores_gemma":[0.001880257,0.000458979,0.0005336127,0.0005126328,0.0007736046,0.0004382498,0.0007365657,0.0008044845,0.0003474167],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004778427,"about_ca_system_score_gemma":0.0004185319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002430107,"about_ca_topic_score_gemma":0.002383082,"domain_scores_codex":[0.9995775,0.00003783904,0.00005747802,0.0001456885,0.00009111485,0.00009037269],"domain_scores_gemma":[0.9992986,0.0002984059,0.0001219605,0.00002983295,0.00005028225,0.0002008712],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002973855,0.0001043446,0.1222806,0.00006437149,0.00006482175,0.8150144,0.001395144,0.0003056315,0.05295193,0.0004846647,0.0005117415,0.006525087],"study_design_scores_gemma":[0.00004578528,0.0001738439,0.1603856,0.00005901646,0.0001309771,0.8262395,0.0008097223,0.001009533,0.008534907,0.0005084993,0.002065368,0.00003728857],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977939,0.00018886,0.0004378301,0.0001909033,0.00001928507,0.00002051427,0.0002090934,0.00001819365,0.0011214],"genre_scores_gemma":[0.9987535,0.0001042157,0.0004650337,0.0001114955,0.00001836567,0.000008093911,0.0001045789,0.00001627872,0.0004184704],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002435982,"threshold_uncertainty_score":0.008149147,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01226622810875241,"score_gpt":0.2463534661664663,"score_spread":0.2340872380577138,"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."}}