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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

Description

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]

CollectionsANU Research Publications
Date published: 2015-06-02
Type: Journal article
URI: http://dx.doi.org/10.1186/s12967-015-0525-x
http://hdl.handle.net/1885/15121
Source: Journal of Translational Medicine
DOI: 10.1186/s12967-015-0525-x

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