The paper details the expansion of the
ENCODE registry, a comprehensive catalog of
candidate cis-regulatory elements (cCREs) used to study gene expression in humans and mice. Researchers nearly tripled the registry's size to include
2.37 million human elements by utilizing advanced computational methods and diverse datasets across hundreds of cell types. This updated resource introduces
new functional categories, such as silencers and latent enhancers, which were validated through large-scale assays like
STARR-seq and CRISPR perturbations. The sources demonstrate the registry's utility in
interpreting genetic variation, specifically identifying
KLF1 as a likely causal gene for red blood cell traits. Ultimately, this expanded framework provides a vital tool for understanding the
regulatory genome and its impact on human health and disease.
References:
- Moore J E, Pratt H E, Fan K, et al. An expanded registry of candidate cis-regulatory elements[J]. Nature, 2026: 1-10.