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

The association of genetic variation with disease and drug response, and improvements in
nucleic acid technologies, have given great optimism for the impact of 'genomic medicine' …

The end of the start for population sequencing | Nature Skip to main content Thank you for
visiting nature.com. You are using a browser version with limited support for CSS. To obtain the …

After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

Abstract The 1000 Genomes Project aims to provide a deep characterisation of human
genome sequence variation as a foundation for investigating the relationship between …

We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed
throughout the human genome, providing an average density on available sequence of one …

The decade since the Human Genome Project ended has witnessed a remarkable
sequencing technology explosion that has permitted a multitude of questions about the …

Recent advances in high-throughput DNA sequencing technologies have enabled order-of-
magnitude improvements in both cost and throughput. Here we report the use of single …

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 …

The extent of human genomic structural variation suggests that there must be portions of the
genome yet to be discovered, annotated and characterized at the sequence level. We …