Cohort-driven variant burden analysis and pathogenicity identification in monogenic autoinflammatory disorders

Nearly 50 pathogenic genes and hundreds of pathogenic variants have been identified in monogenic autoinflammatory diseases (AIDs). Nonetheless, there are still many genes for which the pathogenic mechanisms are poorly understood, and the pathogenicity of many candidate variants needs to be determined.
Source: Journal of Allergy and Clinical Immunology - Category: Allergy & Immunology Authors: Source Type: research