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 …

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 …

Isoform-resolved transcriptome of the human preimplantation embryo

D Torre, NJ Francoeur, Y Kalma, I Gross Carmel… - Nature …, 2023 - nature.com
Human preimplantation development involves extensive remodeling of RNA expression and
splicing. However, its transcriptome has been compiled using short-read sequencing data …

Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

AA Brown, JJ Fernandez-Tajes, M Hong… - Nature …, 2023 - nature.com
We evaluate the shared genetic regulation of mRNA molecules, proteins and metabolites
derived from whole blood from 3029 human donors. We find abundant allelic heterogeneity …

Correlation AnalyzeR: functional predictions from gene co-expression correlations

HE Miller, AJR Bishop - BMC bioinformatics, 2021 - Springer
Background Co-expression correlations provide the ability to predict gene functionality
within specific biological contexts, such as different tissue and disease conditions. However …

In vivo AAV–SB-CRISPR screens of tumor-infiltrating primary NK cells identify genetic checkpoints of CAR-NK therapy

L Peng, PA Renauer, G Sferruzza, L Yang, Y Zou… - Nature …, 2024 - nature.com
Natural killer (NK) cells have clinical potential against cancer; however, multiple limitations
hinder the success of NK cell therapy. Here, we performed unbiased functional mapping of …

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs

N Kerimov, R Tambets, JD Hayhurst, I Rahu… - PLoS …, 2023 - journals.plos.org
The eQTL Catalogue is an open database of uniformly processed human molecular
quantitative trait loci (QTLs). We are continuously updating the resource to further increase …

Systematic exploration of dynamic splicing networks reveals conserved multistage regulators of neurogenesis

H Han, AJ Best, U Braunschweig, N Mikolajewicz, JD Li… - Molecular cell, 2022 - cell.com
Alternative splicing (AS) is a critical regulatory layer; yet, factors controlling functionally
coordinated splicing programs during developmental transitions are poorly understood …

Genome-wide discovery for biomarkers using quantile regression at biobank scale

C Wang, T Wang, K Kiryluk, Y Wei, H Aschard… - Nature …, 2024 - nature.com
Genome-wide association studies (GWAS) for biomarkers important for clinical phenotypes
can lead to clinically relevant discoveries. Conventional GWAS for quantitative traits are …

Multiplexed LNP-mRNA vaccination against pathogenic coronavirus species

L Peng, Z Fang, PA Renauer, A McNamara, JJ Park… - Cell Reports, 2022 - cell.com
Although COVID-19 vaccines have been developed, multiple pathogenic coronavirus
species exist, urging on development of multispecies coronavirus vaccines. Here we …