Matthew C. Pahl

PEGASUS defines a community reporting standard for GWAS predicted effector genes: a metadata record, a full locus-by-gene evidence matrix, and a derived author-prioritised gene list.

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

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

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

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.

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.

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.

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

The paper identifies Notch signaling as a regulator of temporal factor expression, controlling the timing of mushroom body neuroblast apoptosis in Drosophila.

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.

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.

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

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.

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.

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.