Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren’s syndrome
Johar, Angad S.; Mastronardi, Claudio; Rojas-Villarraga, Adriana; Patel, Hardip R.; Chuah, Aaron; Peng, Kaiman; Higgins, Angela; Milburn, Peter; Palmer, Stephanie; Silva-Lara, Maria F.; Velez, Jorge I.; Andrews, Dan; Field, Matthew; Huttley, Gavin; Goodnow, Chris; Anaya, Juan-Manuel; Arcos-Burgos, Mauricio
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...[Show more]
|Collections||ANU Research Publications|
|Source:||Journal of Translational Medicine|
|Johar et al Novel and Rare Functional Genomic Variants 2015.pdf||1.19 MB||Adobe PDF|
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