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Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …
understand mechanisms underpinning gene regulation and disease. In the present study …
Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder
Biobanks often contain several phenotypes relevant to diseases such as major depressive
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …
Genetic influences on disease subtypes
Disease classification, or nosology, was historically driven by careful examination of clinical
features of patients. As technologies to measure and understand human phenotypes …
features of patients. As technologies to measure and understand human phenotypes …
Genetics of trans-regulatory variation in gene expression
Heritable variation in gene expression forms a crucial bridge between genomic variation
and the biology of many traits. However, most expression quantitative trait loci (eQTLs) …
and the biology of many traits. However, most expression quantitative trait loci (eQTLs) …
Adjusting for principal components can induce collider bias in genome-wide association studies
Principal component analysis (PCA) is widely used to control for population structure in
genome-wide association studies (GWAS). Top principal components (PCs) typically reflect …
genome-wide association studies (GWAS). Top principal components (PCs) typically reflect …
Genetic effects on the commensal microbiota in inflammatory bowel disease patients
Several bacteria in the gut microbiota have been shown to be associated with inflammatory
bowel disease (IBD), and dozens of IBD genetic variants have been identified in genome …
bowel disease (IBD), and dozens of IBD genetic variants have been identified in genome …
Cell-type heterogeneity in adipose tissue is associated with complex traits and reveals disease-relevant cell-specific eQTLs
Adipose tissue is an important endocrine organ with a role in many cardiometabolic
diseases. It is comprised of a heterogeneous collection of cell types that can differentially …
diseases. It is comprised of a heterogeneous collection of cell types that can differentially …
Genetic regulation of gene expression and splicing during a 10-year period of human aging
Background Molecular and cellular changes are intrinsic to aging and age-related diseases.
Prior cross-sectional studies have investigated the combined effects of age and genetics on …
Prior cross-sectional studies have investigated the combined effects of age and genetics on …
Co-expression analysis reveals interpretable gene modules controlled by trans-acting genetic variants
Understanding the causal processes that contribute to disease onset and progression is
essential for develo** novel therapies. Although trans-acting expression quantitative trait …
essential for develo** novel therapies. Although trans-acting expression quantitative trait …