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

Long et  al. used massively parallel reporter assays combined with 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 b y CRISPRi.

Source: The American Journal of Human Genetics - November 23, 2022 Category: Genetics & Stem Cells Authors: Erping Long, Jinhu Yin, Karen M. Funderburk, Mai Xu, James Feng, Alexander Kane, Tongwu Zhang, Timothy Myers, Alyxandra Golden, Rohit Thakur, Hyunkyung Kong, Lea Jessop, Eun Young Kim, Kristine Jones, Raj Chari, Mitchell J. Machiela, Kai Yu, Melanoma Meta Tags: Article Source Type: research