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 …
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 …
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 …
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
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
on machine learning evaluations, we propose a lncRNA-mitochondrial interaction pathway …