The 3D organization of mammalian chromatin was described more than 30 years ago by
visualizing sites of DNA synthesis at different times during the S phase of the cell cycle …

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

Cancer genomes often harbor hundreds of somatic DNA rearrangement junctions, many of
which cannot be easily classified into simple (eg, deletion) or complex (eg, chromothripsis) …

The selective pressures that shape clonal evolution in healthy individuals are largely
unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb …

DNA replication begins with the assembly of pre-replication complexes (pre-RCs) at
thousands of DNA replication origins during the G1 phase of the cell cycle. At the G1–S …

Thousands of genomic segments appear to be present in widely varying copy numbers in
different human genomes. We developed ways to use increasingly abundant whole-genome …

Replication origins, fragile sites, and rDNA have been implicated as sources of
chromosomal instability. However, the defining genomic features of replication origins and …

Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with
somatic mutations that is associated with an increased risk of haematological malignancies …

When cellular traits are measured using high-throughput DNA sequencing, quantitative trait
loci (QTLs) manifest as fragment count differences between individuals and allelic …

We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …