Epigenetic regulation in metabolic diseases: mechanisms and advances in clinical study

YL Wu, ZJ Lin, CC Li, X Lin, SK Shan, B Guo… - … and Targeted Therapy, 2023 - nature.com
Epigenetics regulates gene expression and has been confirmed to play a critical role in a
variety of metabolic diseases, such as diabetes, obesity, non-alcoholic fatty liver disease …

Characterizing cis-regulatory elements using single-cell epigenomics

S Preissl, KJ Gaulton, B Ren - Nature Reviews Genetics, 2023 - nature.com
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 …

[HTML][HTML] Loss of epigenetic information as a cause of mammalian aging

JH Yang, M Hayano, PT Griffin, JA Amorim… - Cell, 2023 - cell.com
All living things experience an increase in entropy, manifested as a loss of genetic and
epigenetic information. In yeast, epigenetic information is lost over time due to the …

A genomic mutational constraint map using variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - Nature, 2024 - nature.com
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Hyenadna: Long-range genomic sequence modeling at single nucleotide resolution

E Nguyen, M Poli, M Faizi, A Thomas… - Advances in neural …, 2024 - proceedings.neurips.cc
Genomic (DNA) sequences encode an enormous amount of information for gene regulation
and protein synthesis. Similar to natural language models, researchers have proposed …

Complex heatmap visualization

Z Gu - Imeta, 2022 - Wiley Online Library
Heatmap is a widely used statistical visualization method on matrix‐like data to reveal
similar patterns shared by subsets of rows and columns. In the R programming language …

FcγR-mediated SARS-CoV-2 infection of monocytes activates inflammation

C Junqueira, Â Crespo, S Ranjbar, LB De Lacerda… - Nature, 2022 - nature.com
SARS-CoV-2 can cause acute respiratory distress and death in some patients. Although
severe COVID-19 is linked to substantial inflammation, how SARS-CoV-2 triggers …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

DP Wightman, IE Jansen, JE Savage, AA Shadrin… - Nature …, 2021 - nature.com
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

KA Jagadeesh, KK Dey, DT Montoro, R Mohan… - Nature …, 2022 - nature.com
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 …