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.
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
Editorials
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
