Chromatin accessibility profiling methods

L Minnoye, GK Marinov, T Krausgruber, L Pan… - Nature Reviews …, 2021 - nature.com
Chromatin accessibility, or the physical access to chromatinized DNA, is a widely studied
characteristic of the eukaryotic genome. As active regulatory DNA elements are generally …

Perspectives on ENCODE

MP Snyder, TR Gingeras, JE Moore, Z Weng… - Nature, 2020 - nature.com
Abstract The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the
long-term goal of developing a comprehensive map of functional elements in the human …

JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles

JA Castro-Mondragon, R Riudavets-Puig… - Nucleic acids …, 2022 - academic.oup.com
Abstract JASPAR (http://jaspar. genereg. net/) is an open-access database containing
manually curated, non-redundant transcription factor (TF) binding profiles for TFs across six …

Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer

WR Becker, SA Nevins, DC Chen, R Chiu… - Nature …, 2022 - nature.com
To chart cell composition and cell state changes that occur during the transformation of
healthy colon to precancerous adenomas to colorectal cancer (CRC), we generated single …

[PDF][PDF] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
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 …

Genome-wide enhancer maps link risk variants to disease genes

J Nasser, DT Bergman, CP Fulco, P Guckelberger… - Nature, 2021 - nature.com
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Expanded encyclopaedias of DNA elements in the human and mouse genomes

JE Moore, MJ Purcaro, HE Pratt, CB Epstein… - Nature, 2020 - nature.com
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 …

[HTML][HTML] Organization of the human intestine at single-cell resolution

JW Hickey, WR Becker, SA Nevins, A Horning… - Nature, 2023 - nature.com
The intestine is a complex organ that promotes digestion, extracts nutrients, participates in
immune surveillance, maintains critical symbiotic relationships with microbiota and affects …

Regulatory genomic circuitry of human disease loci by integrative epigenomics

CA Boix, BT James, YP Park, W Meuleman, M Kellis - Nature, 2021 - nature.com
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 …