Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …

High-throughput sequencing technologies promise to transform the fields of genetics and
comparative biology by delivering tens of thousands of genomes in the near future. Although …

Nanopore sequencing technology has the potential to render other sequencing
technologies obsolete with its ability to generate long reads and provide portability …

Neandertals, the closest evolutionary relatives of present-day humans, lived in large parts of
Europe and western Asia before disappearing 30,000 years ago. We present a draft …

The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying …

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 …

Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we
have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This …

We present a DNA library preparation method that has allowed us to reconstruct a high-
coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The …

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 …

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 …