Genetic variation among individual humans occurs on many different scales, ranging from
gross alterations in the human karyotype to single nucleotide changes. Here we explore …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …

Most great ape genetic variation remains uncharacterized 1 , 2 ; however, its study is critical
for understanding population history 3 , 4 , 5 , 6 , recombination 7 , selection 8 and …

Despite their importance in gene innovation and phenotypic variation, duplicated regions
have remained largely intractable owing to difficulties in accurately resolving their structure, …

We describe the genome sequencing of an anonymous individual of African origin using a
novel ligation-based sequencing assay that enables a unique form of error correction that …

‘Orang-utan’ is derived from a Malay term meaning ‘man of the forest’ and aptly describes the
southeast Asian great apes native to Sumatra and Borneo. The orang-utan species, Pongo …

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

Highly active (ie, "hot") long interspersed element-1 (LINE-1 or L1) sequences comprise the
bulk of retrotransposition activity in the human genome; however, the abundance of hot L1s …

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 …