{"id":"W3213878445","doi":"10.1038/s41525-021-00263-z","title":"Homozygous duplication identified by whole genome sequencing causes LRBA deficiency","year":2021,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Ontario Genomics; Hospital for Sick Children","funders":"Qatar National Research Fund; Fonds National de la Recherche Luxembourg; University of Toronto; Immunodeficiency Canada; Jeffrey Modell Foundation","keywords":"Sanger sequencing; Genetics; Biology; Exome sequencing; Gene duplication; Whole genome sequencing; Primary immunodeficiency; Exome; Gene; Genome; DNA sequencing; Mutation; Immune system","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":[0.0001416987,0.0006438546,0.0003301981,0.0007444772,0.0002043617,0.0002363759,0.0002656392,0.0006718597,0.001772585],"category_scores_gemma":[0.0007057899,0.0001763038,0.0002338366,0.0003923186,0.0003239787,0.0001659117,0.0003551863,0.0003023403,0.0005227293],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001715158,"about_ca_system_score_gemma":0.00017481,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000410227,"about_ca_topic_score_gemma":0.0006722714,"domain_scores_codex":[0.9998205,0.00002837131,0.00001733915,0.00005751432,0.00005199767,0.00002440876],"domain_scores_gemma":[0.9997969,0.00007722662,0.00007018025,0.00001917858,0.0000129386,0.00002352693],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0005403174,0.0001031308,0.07489322,0.0003926174,0.0001556381,0.2305033,0.0005438426,0.0008588972,0.6396539,0.0009093417,0.001402327,0.05004347],"study_design_scores_gemma":[0.00006955183,0.0003876895,0.2173115,0.0001021727,0.0002163342,0.6512522,0.0003461702,0.003378305,0.1159006,0.001029359,0.009979064,0.00002711159],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923953,0.0009835747,0.003564166,0.0001361477,0.00002275059,0.00003767526,0.0005210486,0.0001825398,0.002156948],"genre_scores_gemma":[0.9961517,0.0004691692,0.002252748,0.00007027201,0.00001915122,0.00001111806,0.0003472536,0.0000246942,0.0006538072],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001772585,"threshold_uncertainty_score":0.005929887,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01538715474116138,"score_gpt":0.2377804037159555,"score_spread":0.2223932489747941,"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."}}