Status: Awaiting samples
Gene Regulatory Elements variations play an important role in human disease and genetic evolution. Statistical association of variants with gene expression is informative but doesn’t necessarily mean causality due to linkage disequilibrium. Biochemical methods (CHIP-seq, DNase-seq, ATAC-seq, Hi-C) help annotate Candidate regulatory elements (CRSs). However additional experimental assays must be performed in order to validate their predicted activity and the impact of the variants. Here, we used a massively parallel reporter assay in Calu3, Thp1 and Jurkat cell lines to investigate the regulatory effects of 6000 single-nucleotide variants in candidate regulatory elements.
Submitted: 2022-04-07 15:53 · Last updated: 2024-05-24 15:07