High-quality and complete reference genome assemblies are fundamental for the application
of genomics to biology, disease, and biodiversity conservation. However, such assemblies …

The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from
the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and …

The genetic structure of the indigenous hunter-gatherer peoples of southern Africa, the oldest
known lineage of modern human, is important for understanding human diversity. Studies …

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 …

Comparative genomics is a simple, powerful way to increase the accuracy of gene
prediction. In this study, we show the utility of a simple test for the identification of protein-coding …

Mutation rates of microsatellites vary greatly among loci. The causes of this heterogeneity
remain largely enigmatic yet are crucial for understanding numerous human neurological …

Short insertions and deletions (indels) are the second most abundant form of human genetic
variation, but our understanding of their origins and functional effects lags behind that of …

The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of
heteroplasmy (the presence of several alleles in an individual), yet its transmission across …

Studies of human genetic diseases have suggested a higher mutation rate in males than in
females 1 and the male-to-female ratio (α) of mutation rate has been estimated from DNA …

The variation in local rates of mutations can affect both the evolution of genes and their function
in normal and cancer cells. Deciphering the molecular determinants of this variation will …