Mutations in genes involved in DNA methylation (DNAme; for example, TET2 and DNMT3A)
are frequently observed in hematological malignancies,–and clonal hematopoiesis …

Noncoding DNA regions have central roles in human biology, evolution, and disease.
ChromHMM helps to annotate the noncoding genome using epigenomic information across …

A large number of putative cis-regulatory sequences have been annotated in the human
genome, but the genes they control remain poorly defined. To bridge this gap, we generate …

Background In recent years the Illumina HumanMethylation450 (HM450) BeadChip has
provided a user-friendly platform to profile DNA methylation in human samples. However …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Abstract Transposase-Accessible Chromatin followed by sequencing (ATAC-seq) is a
simple protocol for detection of open chromatin. Computational footprinting, the search for …

Combinatorial binding of transcription factors to regulatory DNA underpins gene regulation
in all organisms. Genetic variation in regulatory regions has been connected with diseases …

The cistrome is the complete set of transcription factor (TF) binding sites (cis-elements) in an
organism, while an epicistrome incorporates tissue-specific DNA chemical modifications and …

Parallel single-cell sequencing protocols represent powerful methods for investigating
regulatory relationships, including epigenome-transcriptome interactions. Here, we report a …

DNA can determine where and when genes are expressed, but the full set of sequence
determinants that control gene expression is unknown. Here, we measured the …