Andrew D. Wells

Variant-to-gene mapping in ocular cell types identifies candidate effector genes for primary open-angle glaucoma

This study maps POAG risk variants to candidate effector genes in ocular cell types, identifying ARHGEF12 as a potential target.

Cross-species variant-to-function analyses implicate MEIS1 in conferring sleep abnormalities and impaired cerebellar development

The paper identifies MEIS1 as a gene involved in sleep abnormalities and cerebellar development using cross-species variant-to-function analyses in zebrafish.

Tonsillar expression quantitative trait loci verify and expand genetic contributors to childhood atopic diseases

The paper identifies eQTLs and eGenes in tonsil-derived immune cells from children, linking them to childhood atopic diseases and expanding known genetic contributors.

GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density

The paper integrates GWAS data with a CRISPRi screen in osteoblasts to identify genes affecting bone mineral density and reveals pleiotropy across non-bone tissues.

Trans-ancestry genome-wide association meta-analysis of gallstone disease

This study identifies 91 risk loci for gallstone disease through a trans-ancestry GWAS, including 37 novel loci, and links them to metabolic and liver-related traits.

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.

Variant-to-function mapping of late-onset Alzheimer's disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus

The paper maps GWAS variants associated with late-onset Alzheimer's disease to functional effects in microglial cells, identifying RTFDC1 as a novel effector gene at the CASS4 locus.

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.

Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2

The paper identifies rs7132908 as a causal variant in the chr12q13 obesity locus, showing it affects FAIM2 expression and neurodevelopment through cis-regulatory mechanisms.

Perturbation of the insomnia WDR90 GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q

This study identifies rs3752495 as the causal variant at the insomnia WDR90 GWAS locus that influences PIG-Q expression through a regulatory mechanism.

Variant-to-gene-mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as novel regulator of sleep

The paper identifies GPI-anchor biosynthesis as a conserved regulator of sleep through variant-to-gene mapping and cross-species genetic screening in humans and model organisms.

Zebrafish screen of high-confidence effector genes at insomnia GWAS loci implicates conserved regulators of sleep-wake behaviors

The paper identifies conserved genes at insomnia GWAS loci using zebrafish CRISPR screens and chromatin interaction data, finding that MEIS1 and SKIV2L mutations produce insomnia-like behaviors.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

The three-dimensional chromatin structure of the major human pancreatic cell types reveals lineage-specific regulatory architecture of T2D risk

The paper uses 3D chromatin maps to identify cell-type-specific regulatory architecture of type 2 diabetes risk by analyzing pancreatic cell types.

Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant common complex traits

The paper maps cis-regulatory elements in human ESC-derived hypothalamic neurons and links them to GWAS loci for complex traits, identifying candidate genes and regulatory elements involved in hypothalamic development.

Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches

The paper compares PCC and PCHiC methods using different restriction enzymes to assess their sensitivity in detecting promoter interactions and their association with regulatory features and genetic variation.

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.

Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping

The paper identifies 40 novel genetic loci associated with longitudinal pediatric bone accrual and identifies candidate effector genes through variant-to-gene mapping and functional validation.

Collapse of the hepatic gene regulatory network in the absence of FoxA factors

This study shows that FoxA factors are essential for maintaining the hepatic gene regulatory network in adult mice, as their loss leads to rapid hepatocyte dedifferentiation and lethality.

Human follicular helper T cell promoter connectomes reveal novel genes and regulatory elements at SLE GWAS loci

This paper identifies functional variants and regulatory elements at SLE GWAS loci using 3D chromatin maps of TFH cells, revealing novel genes and regulatory interactions.

Genetic And Epigenetic Fine Mapping Of Complex Trait Associated Loci In The Human Liver

The paper fine-maps 77 GWAS loci in the human liver by integrating epigenetic and gene expression data to understand genetic and epigenetic regulation of gene expression.

Genome-scale Capture C promoter interaction analysis implicates novel effector genes at GWAS loci for bone mineral density

The paper uses SPATIaL-seq and ATAC-seq to identify novel effector genes at GWAS loci for bone mineral density by mapping variant-promoter interactions in osteoblasts.

A dementia-associated risk variant near TMEM106B alters chromatin architecture and gene expression

The paper identifies a causal variant near TMEM106B that alters chromatin architecture and gene expression, linking it to frontotemporal lobar degeneration and neurodegenerative disease risk.