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.

Research Highlights

Genetic variation: Diving deep into the genome

Nature Reviews Genetics doi:10.1038/nrg.2016.144

Genetic variation: ExAC boosts clinical variant interpretation in rare diseases

Nature Reviews Genetics 17, 584 (2016) doi:10.1038/nrg.2016.121

Clinical genetics: Pathogenic non-coding variant identification

Nature Reviews Genetics 17, 583 (2016) doi:10.1038/nrg.2016.124

Genetic variation: Mapping inversions in single cells

Nature Reviews Genetics 17, 581 (2016) doi:10.1038/nrg.2016.110

Genetic variation: Nuclear and mitochondrial genome interplay

Nature Reviews Genetics 17, 502 (2016) doi:10.1038/nrg.2016.96

Population genetics: Bursts of male-lineage expansions

Nature Reviews Genetics 17,374 (2016) doi:10.1038/nrg.2016.63

Human genetics: Splicing: linking genetic variation and disease

Nature Reviews Genetics 17, 317 (2016) doi:10.1038/nrg.2016.64

Genetic variation: Linking TF binding to disease risk using pooled ChIP–seq

Nature Reviews Genetics 17, 317 (2016) doi:10.1038/nrg.2016.55

Genetic screens: Finding the resilient few

Nature Reviews Genetics 17, 316 (2016) doi:10.1038/nrg.2016.54

Human genetics: Loss-of-function variants — not always what they seem

Nature Reviews Genetics 17, 251 (2016) doi:10.1038/nrg.2016.33

Genetic variation: New tool to map genetic modifiers of transcription factor–gene target connections

Nature Reviews Genetics 17, 255 (2016) doi:10.1038/nrg.2016.43

Complex traits: Integrating gene variation and expression to understand complex traits

Nature Reviews Genetics 17, 194 (2016) doi:10.1038/nrg.2016.18

Disease genetics: Prion variant pathogenicity through large-scale population sequencing

Nature Reviews Genetics 17, 127 (2016) doi:10.1038/nrg.2016.9



Genome variation in precision medicine

Nature Genetics 48, 701 (2016) doi:10.1038/ng.3614

A new genomic island

Nature Genetics 47, 1221 (2015) doi:10.1038/ng.3436

Whole genome?

Nature Genetics 47, 963 (2015) doi:10.1038/ng.3397

Marshaling the Variome

Nature Genetics 47, 849 (2015) doi:10.1038/ng.3377


News & Views

The history of the Y chromosome in man  

Nature Genetics 48, 588–589 (2016) doi:10.1038/ng.3580

CREBRF variant increases obesity risk and protects against diabetes in Samoans

Nature Genetics 48, 976–978 (2016) doi:10.1038/ng.3653

Small island, big genetic discoveries

Nature Genetics 47, 1224–1225 (2015) doi:10.1038/ng.3426