Article
Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.
Scientific reports - 28 Oct 2019
Jones Sarah A, Cantsilieris Stuart, Fan Huapeng, Cheng Qiang, Russ Brendan E, Tucker Elena J, Harris James, Rudloff Ina, Nold Marcel, Northcott Melissa, Dankers Wendy, Toh Andrew E J, White Stefan J, Morand Eric F
Abstract excerpt
Personalized medicine approaches are increasingly sought for diseases with a heritable component. Systemic lupus erythematosus (SLE) is the prototypic autoimmune disease resulting from loss of immunologic tolerance, but the genetic basis of SLE remains incompletely understood. Genome wide association studies (GWAS) identify regions associated with disease, based on common single nucleotide polymorphisms (SNPs)...
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