Whole genome sequencing of juvenile idiopathic arthritis cases

We leveraged 12 large, multi-generation pedigrees to discover disease risk in genomic regions identical by state (IBS), between distantly related cases of juvenile idiopathic arthritis. Distantly related cases are more likely to share the same causal variants than any pair of unrelated individuals in a population but also share a very limited amount of identical DNA. This assumption has been applied in a computational approach developed at the University of Utah termed Shared Genomic Segments (SGS) analysis, which observes long tracts of IBS that are likely to be genomic regions that are identical by descent (IBD). SGS analysis on high-risk pedigrees has been successfully implemented in the past to identify disease-risk variants in DNA repair and chromatin remodeling genes in multiple myeloma risk, plasma cell cancer, and several other diseases. This work seeks to identify and characterize genomic variation within statistically significant genomic segments shared between cases that contribute to increased susceptibility to JIA.