Elucidating Variants in Systemic JIA from Analysis of Illumina & Ion Torrent Exome Data
نویسنده
چکیده
Motivation: Children 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. Results: Two 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. Availability: ftp.systemicjia.com Contact: [email protected]
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