A multilayered post-GWAS analysis pipeline defines functional variants and target genes for systemic lupus erythematosus (SLE).
Mehdi Fazel-NajafabadiLoren L LoogerHarikrishna Reddy RallabandiSwapan K NathPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2024)
We demonstrate and validate post-GWAS strategies for utilizing multi-dimensional data to prioritize likely causal variants with cognate gene targets underlying SLE pathogenesis. Our results provide a catalog of significantly SLE-associated SNPs and loci, target genes, and likely biochemical mechanisms, to guide experimental characterization.
Keyphrases
- systemic lupus erythematosus
- genome wide
- copy number
- disease activity
- dna methylation
- genome wide identification
- genome wide association study
- electronic health record
- rheumatoid arthritis
- heat shock
- bioinformatics analysis
- big data
- gene expression
- genome wide association
- oxidative stress
- deep learning
- artificial intelligence