Kevin M. Brown

Long-range chromatin interactions nominate candidate susceptibility genes at non-coding PDAC risk loci

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.

Disruption of CTCF binding by germline non-coding variants in CDKN2B suppress CDKN2A expression and predispose to melanoma

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

Large distant deletion disrupts CDKN2A enhancer and predisposes to melanoma

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

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma

This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus

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.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as modulating risk for melanoma and nevi via RAS activation

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

Functional characterization of a multi-cancer risk locus on chromosome band 2q33.1 near CASP8

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

Identifying High-Dimensional Genomic Factors Modulating Biological Networks Across Multi-Omics Data

GFBioNet identifies genomic factors modulating trait-trait relationships in multi-omics data, revealing host genetics, microbial taxa, and mutations affecting biological networks.

Integrative multi-omic analysis identifies key transcription factors and target proteins in renal cell carcinoma and its subtypes

The paper identifies key transcription factors and their target proteins in renal cell carcinoma using multi-omic integration of ChIP-seq and GWAS data.

Integrating 12 Spatial and Single Cell Technologies to Characterise Tumour Neighbourhoods and Cellular Interactions in three Skin Cancer Types

The paper integrates 12 spatial and single-cell technologies to analyze cellular interactions and signatures in three skin cancers, identifying key therapeutic targets and genetic associations.

A Thiopurine-like Mutagenic Process Defines TGCT Subtypes

This study identifies a unique mutational signature, SBS87, in testicular germ cell tumors (TGCTs) that resembles thiopurine-induced DNA damage and is associated with tumor latency and telomere elongation.

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition

This study analyzes 1024 lung adenocarcinomas to identify evolutionary patterns and mutational mechanisms, revealing distinct trajectories linked to smoking, ancestry, and retrotransposition.

Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of cis-regulation

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.

Shared and unique chromatin accessibility and 3D functional interactions of substance use disorder loci implicate cell types beyond the brain

This paper identifies shared and unique chromatin accessibility and 3D interactions of SUD loci, implicating non-neural cell types like pancreatic β-cells and showing a causal link between T2D and AUD.

Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition

The paper identifies TBX3 as a key regulator in pheomelanogenesis and melanoma predisposition through scRNA-seq analysis of RHC mouse models.

Investigating the genetic architecture of eye colour in a Canadian cohort

This study identifies genetic loci associated with eye colour in a Canadian European cohort, highlighting the HERC2/OCA2 region and other genes, and explores their molecular mechanisms.

ezQTL: A Web Platform for Interactive Visualization and Colocalization of Quantitative Trait Loci and GWAS

ezQTL provides a web tool for colocalizing GWAS and molecular QTL data to identify causal genes and variants.

Expanded Analysis of Pigmentation Genetics in UK Biobank

The paper analyzes pigmentation phenotypes in UK Biobank using DISSECT to identify new candidate genes and explore sex differences and geographic patterns in hair and skin color.

A UVB-responsive common variant at chr7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor gene (AHR)

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.

Cell type-specific meQTL extends melanoma GWAS annotation beyond eQTL and informs melanocyte gene regulatory mechanisms

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

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

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

The genomic and epigenomic evolutionary history of papillary renal cell carcinomas

This study examines intratumor heterogeneity and clonal evolution in papillary renal cell carcinomas using whole-genome sequencing and DNA methylation data, revealing distinct patterns of genomic and epigenomic evolution across subtypes.

Massively parallel reporter assays combined with cell-type specific eQTL informed multiple melanoma loci and identified a pleiotropic function of HIV-1 restriction gene, MX2, in melanoma promotion

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

Overlapping Genetic Architecture between Parkinson Disease and Melanoma

This study identifies a significant genetic correlation between Parkinson disease and melanoma, highlighting shared genes and pathways.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

Cell-type specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

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