Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity

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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. 

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