Description
Erping Long will discuss their study using massively parallel reporter assays and variant scoring to identify functional variants from 78% of known melanoma GWAS loci, including those specific to cell of origin versus cancer contexts. Linking prioritized functional variants to eQTLs identified target genes as validated by CRISPRi.
Overview of Presentation
- Massively parallel reporter assays identified 285 functional variants from 78% of the known melanoma risk loci.
- A scoring system integrated multi-layer functional datasets and prioritized a single variant for 43% of these loci.
- CRISPRi of top-scoring variants validated their cis-regulatory effect on the eQTL target genes, MAFF (22q13.1) and GPRC5A (12p13.1).
- Cell-type specificity were observed for variants in the context of malignant melanoma and normal melanocyte cells.