A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …
biomedical traits, particularly those related to the onset and progression of human disease …
Characterizing cis-regulatory elements using single-cell epigenomics
Cell type-specific gene expression patterns and dynamics during development or in disease
are controlled by cis-regulatory elements (CREs), such as promoters and enhancers …
are controlled by cis-regulatory elements (CREs), such as promoters and enhancers …
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
[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 …
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk
Coronary artery disease (CAD) is a complex inflammatory disease involving genetic
influences across cell types. Genome-wide association studies have identified over 200 loci …
influences across cell types. Genome-wide association studies have identified over 200 loci …
Single cell regulatory landscape of the mouse kidney highlights cellular differentiation programs and disease targets
Determining the epigenetic program that generates unique cell types in the kidney is critical
for understanding cell-type heterogeneity during tissue homeostasis and injury response …
for understanding cell-type heterogeneity during tissue homeostasis and injury response …
Single-nucleus multi-omics of human stem cell-derived islets identifies deficiencies in lineage specification
Insulin-producing β cells created from human pluripotent stem cells have potential as a
therapy for insulin-dependent diabetes, but human pluripotent stem cell-derived islets (SC …
therapy for insulin-dependent diabetes, but human pluripotent stem cell-derived islets (SC …
Insights from multi-omics integration in complex disease primary tissues
Genome-wide association studies (GWAS) have provided insights into the genetic basis of
complex diseases. In the next step, integrative multi-omics approaches can characterize …
complex diseases. In the next step, integrative multi-omics approaches can characterize …
Map** the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments
The functional interpretation of genome-wide association studies (GWAS) is challenging due
to the cell-type-dependent influences of genetic variants. Here, we generated …
to the cell-type-dependent influences of genetic variants. Here, we generated …