Jul 30, 2015

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

BioRxiv : the Preprint Server for Biology
Mohammed Rahman


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. 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.

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Mentioned in this Paper

CSF2RA protein, human
Biochemical Pathway
Procedure on Lung
Systemic Onset Juvenile Chronic Arthritis
Fc epsilon RI
CD23 Antigen
HLA Antigens
Whole Exome Sequencing

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