The genomes of virtually all organisms contain repetitive sequences that are generated by
the activity of transposable elements (transposons). Transposons are mobile genetic …

Transposable elements (TEs) are major components of eukaryotic genomes. However, the
extent of their impact on genome evolution, function, and disease remain a matter of intense …

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Colorectal carcinoma (CRC) is a common cause of mortality, but a comprehensive
description of its genomic landscape is lacking,,,,,,–. Here we perform whole-genome …

Mobile elements and repetitive genomic regions are sources of lineage-specific genomic
innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such …

TP53 is the most frequently mutated gene in human cancer. Functionally, p53 is activated by
a host of stress stimuli and, in turn, governs an exquisitely complex anti-proliferative …

Cancer is driven by genetic change, and the advent of massively parallel sequencing has
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …

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 …

Constitutive heterochromatin is a major component of the eukaryotic nucleus and is
essential for the maintenance of genome stability. Highly concentrated at pericentromeric …