Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Enhancer selectivity in space and time: from enhancer–promoter interactions to promoter activation
The primary regulators of metazoan gene expression are enhancers, originally functionally
defined as DNA sequences that can activate transcription at promoters in an orientation …
defined as DNA sequences that can activate transcription at promoters in an orientation …
Transcriptionally active HERV-H retrotransposons demarcate topologically associating domains in human pluripotent stem cells
Chromatin architecture has been implicated in cell type-specific gene regulatory programs,
yet how chromatin remodels during development remains to be fully elucidated. Here, by …
yet how chromatin remodels during development remains to be fully elucidated. Here, by …
Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability
E McArthur, JA Capra - The American Journal of Human Genetics, 2021 - cell.com
Topologically associating domains (TADs) are fundamental units of three-dimensional (3D)
nuclear organization. The regions bordering TADs—TAD boundaries—contribute to the …
nuclear organization. The regions bordering TADs—TAD boundaries—contribute to the …
Linking genome structures to functions by simultaneous single-cell Hi-C and RNA-seq
Much progress has been made recently in single-cell chromosome conformation capture
technologies. However, a method that allows simultaneous profiling of chromatin …
technologies. However, a method that allows simultaneous profiling of chromatin …
Large-scale chromatin reorganization reactivates placenta-specific genes that drive cellular aging
Nuclear deformation, a hallmark frequently observed in senescent cells, is presumed to be
associated with the erosion of chromatin organization at the nuclear periphery. However …
associated with the erosion of chromatin organization at the nuclear periphery. However …
The 3D architecture of the pepper genome and its relationship to function and evolution
The organization of chromatin into self-interacting domains is universal among eukaryotic
genomes, though how and why they form varies considerably. Here we report a …
genomes, though how and why they form varies considerably. Here we report a …
[HTML][HTML] Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures
Abstract Objective Type 2 diabetes (T2D) is a complex disease characterized by pancreatic
islet dysfunction, insulin resistance, and disruption of blood glucose levels. Genome-wide …
islet dysfunction, insulin resistance, and disruption of blood glucose levels. Genome-wide …
Properties of structural variants and short tandem repeats associated with gene expression and complex traits
Structural variants (SVs) and short tandem repeats (STRs) comprise a broad group of
diverse DNA variants which vastly differ in their sizes and distributions across the genome …
diverse DNA variants which vastly differ in their sizes and distributions across the genome …
Cell-type differential targeting of SETDB1 prevents aberrant CTCF binding, chromatin looping, and cis-regulatory interactions
PLF Tam, MF Cheung, LY Chan, D Leung - Nature Communications, 2024 - nature.com
SETDB1 is an essential histone methyltransferase that deposits histone H3 lysine 9
trimethylation (H3K9me3) to transcriptionally repress genes and repetitive elements. The …
trimethylation (H3K9me3) to transcriptionally repress genes and repetitive elements. The …