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 …

Ever since the pre-molecular era, the birth of new genes with novel functions has been
considered to be a major contributor to adaptive evolutionary innovation. Here, I review the …

Existing human genome assemblies have almost entirely excluded repetitive sequences
within and near centromeres, limiting our understanding of their organization, evolution, and …

Complete and accurate genome assemblies form the basis of most downstream genomic
analyses and are of critical importance. Recent genome assembly projects have relied on a …

Both polygenicity (many small genetic effects) and confounding biases, such as cryptic
relatedness and population stratification, can yield an inflated distribution of test statistics in …

Understanding the extent of genomic transcription and its functional relevance is a central
goal in genomics research. However, detailed genome-wide investigations of transcriptome …

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 …

The sequence of the human genome encodes the genetic instructions for human
physiology, as well as rich information about human evolution. In 2001, the International …

The human X chromosome has a unique biology that was shaped by its evolution as the sex
chromosome shared by males and females. We have determined 99.3% of the euchromatic …

The human genome contains numerous blocks of highly homologous duplicated sequence.
This higher-order architecture provides a substrate for recombination and recurrent …