Mai Xu

The paper fine-maps GWAS risk variants for PDAC and identifies candidate target genes through chromatin conformation capture, finding functional interactions and eQTLs at specific loci.

This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

The paper identifies non-coding variants in CDKN2B that disrupt CTCF binding, reduce CDKN2A expression, and increase melanoma risk in families.

The paper identifies a large distant deletion in DMRTA1 upstream of CDKN2A that predisposes to melanoma by disrupting regulatory sequences and reducing p16 expression.

The paper identifies functional variants and VNTRs at the 5p15.33 locus using fine-mapping, MPRA, and CRISPRi screens, revealing their role in cancer susceptibility through antagonistic pleiotropy.

This study identifies RAPGEF1 as a gene modulating melanoma and nevi risk through RAS activation, using fine-mapping, expression data, and functional assays.

The paper identifies rs3769823 as a functional variant near CASP8 influencing its expression in a cell-type specific manner and associated with multiple cancers.

The paper identifies candidate causal variants and genes at melanoma risk loci using capture-HiC and integrates multi-omics data to prioritize cis-regulatory interactions.

This paper identifies rs117132860 as a functional variant at 7p21.1 that regulates AHR expression in response to UVB, contributing to melanoma risk and tanning ability.

The paper identifies cell-type-specific meQTLs in melanocytes and melanomas, enhancing GWAS annotation and revealing regulatory mechanisms involving IRF4.

The paper identifies a novel NRAS variant in a melanoma-prone family and shows it impairs MAPK/AKT signaling while enhancing PI3K signaling.

The paper identifies multiple melanoma susceptibility genes and variants by integrating MPRA with eQTL data, revealing MX2's role in melanoma promotion.

The paper identifies cell-type specific eQTLs in primary melanocytes, revealing novel melanoma susceptibility genes and associations with GWAS loci.