Where are the disease-associated eQTLs?

BD Umans, A Battle, Y Gilad - Trends in Genetics, 2021 - cell.com
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

The role of alternative splicing in adaptation and evolution

JP Verta, A Jacobs - Trends in Ecology & Evolution, 2022 - cell.com
Regulation of gene expression plays a central role in adaptive divergence and evolution.
Although the role of gene regulation in microevolutionary processes is gaining wide …

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 …

[HTML][HTML] Comprehensive analysis of alternative splicing across tumors from 8,705 patients

A Kahles, KV Lehmann, NC Toussaint, M Hüser… - Cancer cell, 2018 - cell.com
Our comprehensive analysis of alternative splicing across 32 The Cancer Genome Atlas
cancer types from 8,705 patients detects alternative splicing events and tumor variants by …

[HTML][HTML] 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 …

[HTML][HTML] The translational landscape of the human heart

S van Heesch, F Witte, V Schneider-Lunitz, JF Schulz… - Cell, 2019 - cell.com
Gene expression in human tissue has primarily been studied on the transcriptional level,
largely neglecting translational regulation. Here, we analyze the translatomes of 80 human …

[HTML][HTML] Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification

C Tretter, N de Andrade Krätzig, M Pecoraro… - Nature …, 2023 - nature.com
Systemic pan-tumor analyses may reveal the significance of common features implicated in
cancer immunogenicity and patient survival. Here, we provide a comprehensive multi-omics …

Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - BioRxiv, 2022 - biorxiv.org
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …

A statistical framework for cross-tissue transcriptome-wide association analysis

Y Hu, M Li, Q Lu, H Weng, J Wang, SM Zekavat, Z Yu… - Nature …, 2019 - nature.com
Transcriptome-wide association analysis is a powerful approach to studying the genetic
architecture of complex traits. A key component of this approach is to build a model to impute …

Combinatorial expression of GPCR isoforms affects signalling and drug responses

M Marti-Solano, SE Crilly, D Malinverni, C Munk… - Nature, 2020 - nature.com
G-protein-coupled receptors (GPCRs) are membrane proteins that modulate physiology
across human tissues in response to extracellular signals. GPCR-mediated signalling can …