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 Nath

Published in: medRxiv : the preprint server for health sciences (2023)

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
electronic health record
genome wide association study
big data
bioinformatics analysis
genome wide analysis
transcription factor
deep learning