The impact of sex on gene expression across human tissues
…, A Payne, R Bonazzola, AN Barbeira, AR Hamel… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-differentiated
characteristics. These sex differences have been variously attributed to hormones, …
characteristics. These sex differences have been variously attributed to hormones, …
[HTML][HTML] Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide.
To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
[PDF][PDF] A quantitative proteome map of the human body
…, D Garrido-Martín, NR Gay, R Guigó, AR Hamel… - Cell, 2020 - cell.com
Determining protein levels in each tissue and how they compare with RNA levels is important
for understanding human biology and disease as well as regulatory processes that control …
for understanding human biology and disease as well as regulatory processes that control …
Cell type–specific genetic regulation of gene expression across human tissues
INTRODUCTION Efforts to map quantitative trait loci (QTLs) across human tissues by the GTEx
Consortium and others have identified expression and splicing QTLs (eQTLs and sQTLs, …
Consortium and others have identified expression and splicing QTLs (eQTLs and sQTLs, …
[PDF][PDF] Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
…, D Garrido-Martín, NR Gay, R Guigó, AR Hamel… - Cell, 2021 - cell.com
Long non-coding RNA (lncRNA) genes have well-established and important impacts on
molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a …
molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a …
[HTML][HTML] Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease.
Previous genome-wide association studies have identified over 100 loci for the most common …
Previous genome-wide association studies have identified over 100 loci for the most common …
[HTML][HTML] Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …
advance our understanding of the biology of human diseases. Here, we present an in-depth …
[HTML][HTML] QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental
influence. We have analyzed array-based DNA methylation profiles of 160 human …
influence. We have analyzed array-based DNA methylation profiles of 160 human …
[HTML][HTML] Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
AR Hamel, W Yan, JM Rouhana… - Nature …, 2024 - nature.com
Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a
leading cause of irreversible blindness worldwide. However, its molecular and cellular causes …
leading cause of irreversible blindness worldwide. However, its molecular and cellular causes …
Widespread dose-dependent effects of RNA expression and splicing on complex diseases and traits
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …
advance our understanding of the biology of human diseases. Here, we present an in-depth …