Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature Reviews …, 2023 - nature.com
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 …

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

JL Min, G Hemani, E Hannon, KF Dekkers… - Nature …, 2021 - nature.com
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
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

A Dahl, M Thompson, U An, M Krebs, V Appadurai… - Nature Genetics, 2023 - nature.com
Biobanks often contain several phenotypes relevant to diseases such as major depressive
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …

Genetic influences on disease subtypes

A Dahl, N Zaitlen - Annual review of genomics and human …, 2020 - annualreviews.org
Disease classification, or nosology, was historically driven by careful examination of clinical
features of patients. As technologies to measure and understand human phenotypes …

Genetics of trans-regulatory variation in gene expression

FW Albert, JS Bloom, J Siegel, L Day, L Kruglyak - Elife, 2018 - elifesciences.org
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) …

Adjusting for principal components can induce collider bias in genome-wide association studies

KE Grinde, BL Browning, AP Reiner, TA Thornton… - PLoS …, 2024 - journals.plos.org
Principal component analysis (PCA) is widely used to control for population structure in
genome-wide association studies (GWAS). Top principal components (PCs) typically reflect …

Genetic effects on the commensal microbiota in inflammatory bowel disease patients

H Aschard, V Laville, ET Tchetgen, D Knights… - PLoS …, 2019 - journals.plos.org
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 …

Cell-type heterogeneity in adipose tissue is associated with complex traits and reveals disease-relevant cell-specific eQTLs

CA Glastonbury, AC Alves, JSES Moustafa… - The American Journal of …, 2019 - cell.com
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 …

Genetic regulation of gene expression and splicing during a 10-year period of human aging

B Balliu, M Durrant, O Goede, N Abell, X Li, B Liu… - Genome biology, 2019 - Springer
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 …

Co-expression analysis reveals interpretable gene modules controlled by trans-acting genetic variants

L Kolberg, N Kerimov, H Peterson, K Alasoo - Elife, 2020 - elifesciences.org
Understanding the causal processes that contribute to disease onset and progression is
essential for develo** novel therapies. Although trans-acting expression quantitative trait …