We present a high-quality genome sequence of a Neanderthal woman from Siberia. We
show that her parents were related at the level of half-siblings and that mating among close …

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 …

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 quality …

We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old
hunter-gatherers from Luxembourg and Sweden. We analysed these and other …

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 …

The human genome is arguably the most complete mammalian reference assembly 1 , 2 , 3
, yet more than 160 euchromatic gaps remain 4 , 5 , 6 and aspects of its structural variation …

Copy number variants affect both disease and normal phenotypic variation, but those lying
within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing …

… When we examined 378 of these 481 calls for which whole-genome absolute copy number
estimates were available (Sudmant et al. 2010), we find that the SVD-ZRPKM signal at 222/…

Gene duplication is an important source of phenotypic change and adaptive evolution. We
leverage a haploid hydatidiform mole to identify highly identical sequences missing from the …

INTRODUCTION Most studies of human genetic variation have focused on single-nucleotide
variants (SNVs). However, copy-number variants (CNVs) affect more base pairs of DNA …