[HTML][HTML] A survey of best practices for RNA-seq data analysis
Abstract RNA-sequencing (RNA-seq) has a wide variety of applications, but no single
analysis pipeline can be used in all cases. We review all of the major steps in RNA-seq data …
analysis pipeline can be used in all cases. We review all of the major steps in RNA-seq data …
Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
[HTML][HTML] Genetic control of RNA splicing and its distinct role in complex trait variation
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …
[HTML][HTML] Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus
The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19)
pandemic has caused millions of deaths worldwide. Genome-wide association studies …
pandemic has caused millions of deaths worldwide. Genome-wide association studies …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Functional characterization of Alzheimer's disease genetic variants in microglia
Candidate cis-regulatory elements (cCREs) in microglia demonstrate the most substantial
enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types …
enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types …
[HTML][HTML] Multimodal single cell sequencing implicates chromatin accessibility and genetic background in diabetic kidney disease progression
The proximal tubule is a key regulator of kidney function and glucose metabolism. Diabetic
kidney disease leads to proximal tubule injury and changes in chromatin accessibility that …
kidney disease leads to proximal tubule injury and changes in chromatin accessibility that …
[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
[HTML][HTML] Single cell transcriptional and chromatin accessibility profiling redefine cellular heterogeneity in the adult human kidney
The integration of single cell transcriptome and chromatin accessibility datasets enables a
deeper understanding of cell heterogeneity. We performed single nucleus ATAC (snATAC …
deeper understanding of cell heterogeneity. We performed single nucleus ATAC (snATAC …
[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …