Human Genetic Variation

Combining next-generation sequencing technologies and high-throughput genotyping platforms has revolutionized the search for genetic variants, from single nucleotide polymorphisms to large-scale copy number variants. Understanding the human variome holds considerable promise for the discovery of new disease-causing genes or potential drug targets, as well as for the design of more nuanced, realistic and complex models of human history and evolution.

This collection by Nature Reviews Genetics and Nature Genetics highlights the breadth of impact that DNA sequence variation has on biological processes and disease development, as well as some of the tools and challenges related to the extraction, collection, curation, interpretation and sharing of human genetic variant data.

A drawing of simplified cartoon DNA composed of many small humans depicted in multi colours.