Where are the disease-associated eQTLs?
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 …
have detectable effects on gene expression. One explanation could be that we have not …
The role of alternative splicing in adaptation and evolution
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 …
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
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
[HTML][HTML] Comprehensive analysis of alternative splicing across tumors from 8,705 patients
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 …
cancer types from 8,705 patients detects alternative splicing events and tumor variants by …
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 …
across individuals is essential for identifying the cellular mechanisms that underlie human …
[HTML][HTML] The translational landscape of the human heart
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 …
largely neglecting translational regulation. Here, we analyze the translatomes of 80 human …
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 …
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
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
A statistical framework for cross-tissue transcriptome-wide association analysis
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 …
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 …
across human tissues in response to extracellular signals. GPCR-mediated signalling can …