Predicting the impact of noncoding genetic variation requires interpreting it in the context of
three-dimensional genome architecture. We have developed deepC, a transfer-learning-…

The value of genome-wide over targeted driver analyses for predicting clinical outcomes of
cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic …

The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19)
pandemic has caused millions of deaths worldwide. Genome-wide association studies …

In higher eukaryotes, many genes are regulated by enhancers that are 10 4 –10 6 base
pairs (bp) away from the promoter. Enhancers contain transcription-factor-binding sites (which …

The promoters of mammalian genes are commonly regulated by multiple distal enhancers,
which physically interact within discrete chromatin domains. How such domains form and …

The chromatin remodeller ATRX interacts with the histone chaperone DAXX to deposit the
histone variant H3.3 at sites of nucleosome turnover. ATRX is known to bind repetitive, …

Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia
worldwide; equating to around 30,000 births per year. HbE β-thalassaemia is due to a …

Gene transcription occurs via a cycle of linked events, including initiation, promoter-proximal
pausing, and elongation of RNA polymerase II (Pol II). A key question is how transcriptional …

Chromosome conformation capture (3C) provides an adaptable tool for studying diverse
biological questions. Current 3C methods generally provide either low-resolution interaction …

In the era of genome-wide association studies (GWAS) and personalized medicine,
predicting the impact of single nucleotide polymorphisms (SNPs) in regulatory elements is an …