Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …

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 …

Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response

K Alasoo, J Rodrigues, S Mukhopadhyay, AJ Knights… - Nature …, 2018 - nature.com
Regulatory variants are often context specific, modulating gene expression in a subset of
possible cellular states. Although these genetic effects can play important roles in disease …

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 …

Warm Temperature Promotes Shoot Regeneration in Arabidopsis thaliana

A Lambolez, A Kawamura, T Takahashi… - Plant and Cell …, 2022 - academic.oup.com
Many plants are able to regenerate upon cutting, and this process can be enhanced in vitro
by incubating explants on hormone-supplemented media. While such protocols have been …

Genetic effects on promoter usage are highly context-specific and contribute to complex traits

K Alasoo, J Rodrigues, J Danesh, DF Freitag, DS Paul… - elife, 2019 - elifesciences.org
Genetic variants regulating RNA splicing and transcript usage have been implicated in both
common and rare diseases. Although transcript usage quantitative trait loci (tuQTLs) have …

[HTML][HTML] recount workflow: Accessing over 70,000 human RNA-seq samples with Bioconductor

L Collado-Torres, A Nellore, AE Jaffe - F1000Research, 2017 - ncbi.nlm.nih.gov
The recount2 resource is composed of over 70,000 uniformly processed human RNA-seq
samples spanning TCGA and SRA, including GTEx. The processed data can be accessed …

[HTML][HTML] Immune disease variants modulate gene expression in regulatory CD4+ T cells

L Bossini-Castillo, DA Glinos, N Kunowska, G Golda… - Cell genomics, 2022 - cell.com
Identifying cellular functions dysregulated by disease-associated variants could implicate
novel pathways for drug targeting or modulation in cell therapies. However, follow-up …

Diabetes mellitus disrupts lncRNA Malat1 regulation of cardiac mitochondrial genome-encoded protein expression

AD Taylor, QA Hathaway… - American Journal …, 2024 - journals.physiology.org
Understanding the cellular mechanisms behind diabetes-related cardiomyopathy is crucial
as it is a common and deadly complication of diabetes mellitus. Dysregulation of the …

Mitochondrial Sequencing Identifies Long Non-Coding RNA Features that Promote Binding to PNPase

AD Taylor, QA Hathaway, A Kunovac… - … of Physiology-Cell …, 2024 - journals.physiology.org
Extranuclear localization of long non-coding RNAs (lncRNAs) is poorly understood. Based
on machine learning evaluations, we propose a lncRNA-mitochondrial interaction pathway …