Epigenome-wide association studies: current knowledge, strategies and recommendations
The aetiology and pathophysiology of complex diseases are driven by the interaction
between genetic and environmental factors. The variability in risk and outcomes in these …
between genetic and environmental factors. The variability in risk and outcomes in these …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
JH Zhao, D Stacey, N Eriksson… - Nature …, 2023 - nature.com
Circulating proteins have important functions in inflammation and a broad range of diseases.
To identify genetic influences on inflammation-related proteins, we conducted a genome …
To identify genetic influences on inflammation-related proteins, we conducted a genome …
Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
Common and rare variant associations with clonal haematopoiesis phenotypes
MD Kessler, A Damask, S O'Keeffe, N Banerjee, D Li… - Nature, 2022 - nature.com
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
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 …
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways
Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis
SP Kar, PM Quiros, M Gu, T Jiang, J Mitchell… - Nature Genetics, 2022 - nature.com
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …
by somatic driver mutations, affects over a third of people, yet remains poorly understood …