Lipoprotein (a)[Lp (a)] has attracted the interest of researchers and physicians due to its
intriguing properties, including an intragenic multiallelic copy number variation in the LPA …

The human cerebral cortex is vastly expanded relative to other primates and
disproportionately occupied by distributed association regions. Here we offer a hypothesis …

Long-read sequencing data, particularly those derived from the Oxford Nanopore
sequencing platform, tend to exhibit high error rates. Here, we present NextDenovo, an …

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

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 …

Genetic changes causing brain size expansion in human evolution have remained elusive.
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of …

INTRODUCTION The rhesus macaque (Macaca mulatta) is one of the most widely used
nonhuman primate (NHP) models for studying human biology and disease. As a …

Gene duplications and their subsequent divergence play an important part in the evolution
of novel gene functions. Several models for the emergence, maintenance and evolution of …

Two African apes are the closest living relatives of humans: the chimpanzee (Pan
troglodytes) and the bonobo (Pan paniscus). Although they are similar in many respects …

Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …