Multi-omics profiling for health

M Babu, M Snyder - Molecular & Cellular Proteomics, 2023 - ASBMB
The world has witnessed a steady rise in both non-infectious and infectious chronic
diseases, prompting a cross-disciplinary approach to understand and treating disease …

Epigenome-wide association studies: current knowledge, strategies and recommendations

MP Campagna, A Xavier, J Lechner-Scott, V Maltby… - Clinical …, 2021 - Springer
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 …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
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 …

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 …

Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease

S Yazar, J Alquicira-Hernandez, K Wing, A Senabouth… - Science, 2022 - science.org
The human immune system displays substantial variation between individuals, leading to
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 …

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 …

Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways

K Watanabe, PR Jansen, JE Savage, P Nandakumar… - Nature …, 2022 - nature.com
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 …

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 …