Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary
among human genomes, but are still relatively under-ascertained. Here we use tiling …

Extensive studies are currently being performed to associate disease susceptibility with one
form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, …

Here we report the Simons Genome Diversity Project data set: high quality genomes from 300
individuals from 142 diverse populations. These genomes include at least 5.8 million base …

Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

DNA copy number variation has long been associated with specific chromosomal rearrangements
and genomic disorders, but its ubiquity in mammalian genomes was not fully realized …

Until recently, the Y chromosome seemed to fulfil the role of juvenile delinquent among
human chromosomes — rich in junk, poor in useful attributes, reluctant to socialize with its …

The 2009 H1N1 influenza pandemic showed the speed with which a novel respiratory virus
can spread and the ability of a generally mild infection to induce severe morbidity and …

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 …

Human Evolutionary Genetics is a groundbreaking text which for the first time brings together
molecular genetics and genomics to the study of the origins and movements of human …