Chromatin accessibility profiling by ATAC-seq
The assay for transposase-accessible chromatin using sequencing (ATAC-seq) provides a
simple and scalable way to detect the unique chromatin landscape associated with a cell …
simple and scalable way to detect the unique chromatin landscape associated with a cell …
Cis-regulatory sequences in plants: their importance, discovery, and future challenges
The identification and characterization of cis-regulatory DNA sequences and how they
function to coordinate responses to developmental and environmental cues is of paramount …
function to coordinate responses to developmental and environmental cues is of paramount …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
Exon architecture controls mRNA m6A suppression and gene expression
N 6-methyladenosine (m6A) is the most abundant messenger RNA (mRNA) modification
and plays crucial roles in diverse physiological processes. Using a massively parallel assay …
and plays crucial roles in diverse physiological processes. Using a massively parallel assay …
Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …
contributing to disease, but in many cases, the related cell types/states through which genes …
[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
Expanded encyclopaedias of DNA elements in the human and mouse genomes
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate …
govern the timing, magnitude, and cellular context of their production. To better delineate …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
Regulatory genomic circuitry of human disease loci by integrative epigenomics
Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …