[HTML][HTML] From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
Insights from multi-omics integration in complex disease primary tissues
Genome-wide association studies (GWAS) have provided insights into the genetic basis of
complex diseases. In the next step, integrative multi-omics approaches can characterize …
complex diseases. In the next step, integrative multi-omics approaches can characterize …
Single-cell RNA-seq reveals cell type–specific molecular and genetic associations to lupus
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease. Knowledge
of circulating immune cell types and states associated with SLE remains incomplete. We …
of circulating immune cell types and states associated with SLE remains incomplete. We …
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …
dysfunction is poorly understood. In the present study, we define the genetic association with …
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits
M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …
specific characterization of DNAm is needed to understand its role in gene regulation and its …
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
Actionable druggable genome-wide Mendelian randomization identifies repurposing opportunities for COVID-19
Drug repurposing provides a rapid approach to meet the urgent need for therapeutics to
address COVID-19. To identify therapeutic targets relevant to COVID-19, we conducted …
address COVID-19. To identify therapeutic targets relevant to COVID-19, we conducted …
An integrated framework for local genetic correlation analysis
J Werme, S van der Sluis, D Posthuma, CA de Leeuw - Nature genetics, 2022 - nature.com
Genetic correlation (rg) analysis is used to identify phenotypes that may have a shared
genetic basis. Traditionally, rg is studied globally, considering only the average of the …
genetic basis. Traditionally, rg is studied globally, considering only the average of the …
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
B Soskic, E Cano-Gamez, DJ Smyth, K Ambridge… - Nature …, 2022 - nature.com
During activation, T cells undergo extensive gene expression changes that shape the
properties of cells to exert their effector function. Understanding the regulation of this …
properties of cells to exert their effector function. Understanding the regulation of this …