DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …

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 …

Gorillas are humans’ closest living relatives after chimpanzees, and are of comparable
importance for the study of human origins and evolution. Here we present the assembly and …

It is now possible to make direct measurements of the mutation rate in modern humans using
next-generation sequencing. These measurements reveal a value that is approximately …

INTRODUCTION Large-scale human genome-sequencing studies to date have been limited
to large, metropolitan populations or to small numbers of genomes from each group. Much …

Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical
alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are …

The Wellcome Trust Sanger Institute is one of the world's largest genome centers, and a
substantial amount of our sequencing is performed with 'next-generation' massively parallel …

We challenge the view that our species, Homo sapiens, evolved within a single population
and/or region of Africa. The chronology and physical diversity of Pleistocene human fossils …

Mountain gorillas are an endangered great ape subspecies and a prominent focus for
conservation, yet we know little about their genomic diversity and evolutionary past. We …

Current fossil, genetic, and archeological data indicate that Homo sapiens originated in
Africa in the late Middle Pleistocene. By the end of the Late Pleistocene, our species was …