Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjogren's syndrome.

ABSTRACT:

Background

Multiple autoimmune syndrome (MAS), an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of these conditions. Whole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with inherited diseases.

Methods

The DNA of eight patients affected by MAS [all of whom presenting with Sjögren's syndrome (SS)], four patients affected by SS alone and 38 unaffected individuals, were subject to WES. Filters to identify novel and rare functional (pathogenic-deleterious) homozygous and/or compound heterozygous variants in these patients and controls were applied. Bioinformatics tools such as the Human gene connectome as well as pathway and network analysis were applied to tes

SUBMITTER: Johar AS 

PROVIDER: S-EPMC4450850 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature