Association of novel rare coding variants with juvenile idiopathic arthritis.
Xinyi MengXiaoyuan HouPing WangJoseph T GlessnerHui-Qi QuMichael E MarchSipeng ZhangXiaohui QiChonggui ZhuKenny NguyenXinyi GaoXiaoge LiYichuan LiuWentao ZhouShuyue ZhangJunyi LiYan SunJie YangPatrick M A SleimanQianghua XiaHakon HakonarsonJin LiPublished in: Annals of the rheumatic diseases (2021)
This study elucidated a novel landscape of recurrent rare coding variants in JIA patients and uncovered significant associations with JIA at the gene pathway level. The convergence of common variants and rare variants for autoimmune diseases is also highlighted in this study.