Article
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus.
The Journal of rheumatology - 1 May 2023
Misztal Melissa C, Liao Fangming, Couse Madeline, Cao Jingjing, Dominguez Daniela, Lau Lynette, Marshall Christian R, Naumenko Sergey, Knight Andrea M, Levy Deborah M, Hiraki Linda T
Abstract excerpt
OBJECTIVE: Genetics play an important role in systemic lupus erythematosus (SLE) pathogenesis. We calculated the prevalence of rare variants in known monogenic lupus genes among children suspected of monogenic lupus. METHODS: We completed paired-end genome-wide sequencing (whole genome sequencing [WGS] or whole exome sequencing) in patients suspected of monogenic lupus, and focused on 36 monogenic lupus genes. We...
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