Elucidating Variants in Systemic JIA from Analysis of Illumina & Ion Torrent Exome Data

Abstract

MotivationChildren with systemic juvenile idiopathic arthritis (SJIA) are affected by a wide-range of complications. Partially arising from the difficulty of diagnosis due to the idiopathic nature of the indication. There may be a genetic basis for SJIA, which could help in both diagnosis, and treatment.\n\nResultsTwo mutations in the Fc epsilon RI pathway, including PIK3CD, were detected in low-coverage Ion Torrent data. Variants of unknown significance were detected within HLA regions on standard Illumina exomes. CSF2RA, which could account for pulmonary observations, had insignificant coverage on both datasets.\n\nAvailabilityftp.systemicjia.com\n\nContactmo@genedrop.com