Shaping immunity: The influence of natural selection on population immune diversity

HE Randolph, KA Aracena, YL Lin, Z Mu… - Immunological …, 2024 - Wiley Online Library
Humans exhibit considerable variability in their immune responses to the same immune
challenges. Such variation is widespread and affects individual and population‐level …

Genetic and molecular architecture of complex traits

T Lappalainen, YI Li, S Ramachandran, A Gusev - Cell, 2024 - cell.com
Human genetics has emerged as one of the most dynamic areas of biology, with a
broadening societal impact. In this review, we discuss recent achievements, ongoing efforts …

Tracing the Evolution of Human Immunity Through Ancient DNA

E Patin, L Quintana-Murci - Annual Review of Immunology, 2024 - annualreviews.org
Infections have imposed strong selection pressures throughout human evolution, making the
study of natural selection's effects on immunity genes highly complementary to disease …

[HTML][HTML] Transposable elements are associated with the variable response to influenza infection

X Chen, A Pacis, KA Aracena, S Gona, T Kwan… - Cell Genomics, 2023 - cell.com
Influenza A virus (IAV) infections are frequent every year and result in a range of disease
severity. Here, we wanted to explore the potential contribution of transposable elements …

Genome graphs detect human polymorphisms in active epigenomic state during influenza infection

C Groza, X Chen, A Pacis, MM Simon, A Pramatarova… - Cell Genomics, 2023 - cell.com
Genetic variants, including mobile element insertions (MEIs), are known to impact the
epigenome. We hypothesized that genome graphs, which encapsulate genetic diversity …

EpiVar Browser: advanced exploration of epigenomics data under controlled access

DR Lougheed, H Liu, KA Aracena, R Grégoire… - …, 2024 - academic.oup.com
Motivation Human epigenomic data has been generated by large consortia for thousands of
cell types to be used as a reference map of normal and disease chromatin states. Since …

DNA methylation-environment interactions in the human genome

RA Johnston, KA Aracena, LB Barreiro, AJ Lea, J Tung - Elife, 2024 - elifesciences.org
Previously, we showed that a massively parallel reporter assay, mSTARR-seq, could be
used to simultaneously test for both enhancer-like activity and DNA methylation-dependent …

Impact of disease-associated chromatin accessibility QTLs across immune cell types and contexts

Z Mu, HE Randolph, R Aguirre-Gamboa, E Ketter… - medRxiv, 2024 - medrxiv.org
Only a third of immune-associated loci from genome-wide association studies (GWAS)
colocalize with expression quantitative trait loci (eQTLs). To learn about causal genes and …

[HTML][HTML] Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk

Z Lu, X Wang, M Carr, A Kim, S Gazal, P Mohammadi… - medRxiv, 2024 - ncbi.nlm.nih.gov
Multi-ancestry statistical fine-mapping of cis-molecular quantitative trait loci (cis-molQTL)
aims to improve the precision of distinguishing causal cis-molQTLs from tagging variants …

Widespread gene-environment interactions shape the immune response to SARS-CoV-2 infection in hospitalized COVID-19 patients

HE Randolph, R Aguirre-Gamboa… - bioRxiv, 2024 - biorxiv.org
Genome-wide association studies performed in patients with coronavirus disease 2019
(COVID-19) have uncovered various loci significantly associated with susceptibility to SARS …