… (D) Diagram of the potential for TAD boundaries to restrict the spread of repressive chromatin
into active domains and vice versa. (E) Diagram of the role of TADs in forming a barrier to …

It can be convenient to think of the genome as simply a string of nucleotides, the linear order
of which encodes an organism's genetic blueprint. However, the genome does not exist as …

… d, Percentages of genomic positions tested by the Survey of Regulatory Elements (SuRE)
assay for promoter activity in K562 cells (SuRE-positive, filled bars; SuRE-negative, white bars)…

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 (48.9% non…

CTCF and the associated cohesin complex play a central role in insulator function and
higher-order chromatin organization of mammalian genomes. Recent studies identified a …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …

… (c,d) Correlation of deltaSVM prediction and observed normalized luciferase expression for
the Tyr (c) and Tyrp1 (d) enhancers. Blue circles indicate previously tested binding site 20,21 …

Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding 1 . Translating these risk variants into mechanistic …

The CCCTC-binding factor (CTCF) works together with the cohesin complex to drive the
formation of chromatin loops and topologically associating domains, but its role in gene …

… d, Cellular composition of adult forebrain derived from snATAC-seq data. e, k-means
clustering of 4,980 genomic elements based on chromatin accessibility. f, Enrichment analysis for …