Molecular and evolutionary processes generating variation in gene expression

MS Hill, P Vande Zande, PJ Wittkopp - Nature Reviews Genetics, 2021 - nature.com
Heritable variation in gene expression is common within and between species. This
variation arises from mutations that alter the form or function of molecular gene regulatory …

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 …

A multi-tissue atlas of regulatory variants in cattle

S Liu, Y Gao, O Canela-Xandri, S Wang, Y Yu, W Cai… - Nature …, 2022 - nature.com
Abstract Characterization of genetic regulatory variants acting on livestock gene expression
is essential for interpreting the molecular mechanisms underlying traits of economic value …

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …

The impact of sex on gene expression across human tissues

M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …

Genetic effects on gene expression across human tissues

GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

A compendium of genetic regulatory effects across pig tissues

J Teng, Y Gao, H Yin, Z Bai, S Liu, H Zeng… - Nature …, 2024 - nature.com
Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been
established to develop a public resource of genetic regulatory variants in livestock, which is …

Transcriptome variation in human tissues revealed by long-read sequencing

DA Glinos, G Garborcauskas, P Hoffman, N Ehsan… - Nature, 2022 - nature.com
Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation

ER Gamazon, AV Segrè, M Van De Bunt, X Wen… - Nature …, 2018 - nature.com
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues
from the Genotype-Tissue Expression project and genome-wide association study data …

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

N de Klein, EA Tsai, M Vochteloo, D Baird, Y Huang… - Nature …, 2023 - nature.com
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …