Current challenges in understanding the role of enhancers in disease
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …
Museum genomics
Natural history collections are invaluable repositories of biological information that provide
an unrivaled record of Earth's biodiversity. Museum genomics—genomics research using …
an unrivaled record of Earth's biodiversity. Museum genomics—genomics research using …
[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 …
Short tandem repeats bind transcription factors to tune eukaryotic gene expression
CA Horton, AM Alexandari, MGB Hayes, E Marklund… - Science, 2023 - science.org
Short tandem repeats (STRs) are enriched in eukaryotic cis-regulatory elements and alter
gene expression, yet how they regulate transcription remains unknown. We found that STRs …
gene expression, yet how they regulate transcription remains unknown. We found that STRs …
Multiple causal variants underlie genetic associations in humans
Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
Dynamic reprogramming of H3K9me3 at hominoid-specific retrotransposons during human preimplantation development
H Yu, M Chen, Y Hu, S Ou, X Yu, S Liang, N Li, M Yang… - Cell stem cell, 2022 - cell.com
Reprogramming of H3K9me3-dependent heterochromatin is required for early development.
How H3K9me3 is involved in early human development remains, however, largely unclear …
How H3K9me3 is involved in early human development remains, however, largely unclear …
HOCOMOCO in 2024: a rebuild of the curated collection of binding models for human and mouse transcription factors
We present a major update of the HOCOMOCO collection that provides DNA binding
specificity patterns of 949 human transcription factors and 720 mouse orthologs. To make …
specificity patterns of 949 human transcription factors and 720 mouse orthologs. To make …
DeepSTARR predicts enhancer activity from DNA sequence and enables the de novo design of synthetic enhancers
BP de Almeida, F Reiter, M Pagani, A Stark - Nature genetics, 2022 - nature.com
Enhancer sequences control gene expression and comprise binding sites (motifs) for
different transcription factors (TFs). Despite extensive genetic and computational studies, the …
different transcription factors (TFs). Despite extensive genetic and computational studies, the …
Integrating transcription factor occupancy with transcriptome-wide association analysis identifies susceptibility genes in human cancers
Transcriptome-wide association studies (TWAS) have successfully discovered many
putative disease susceptibility genes. However, TWAS may suffer from inaccuracy of gene …
putative disease susceptibility genes. However, TWAS may suffer from inaccuracy of gene …