RT Journal Article
SR Electronic
T1 Elucidating Variants in Systemic JIA from Analysis of Illumina & Ion Torrent Exome Data
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 023580
DO 10.1101/023580
A1 M. Rahman
YR 2015
UL http://biorxiv.org/content/early/2015/07/30/023580.abstract
AB 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.comContact mo{at}genedrop.com