Genetic variation articles from across Nature Portfolio

In this Review, Shao et al. discuss experimental and computational advances in single-cell DNA sequencing, insights into somatic genetic variation during normal development and in disease, and the potential use of single-cell somatic mutations for lineage tracing, diagnostics and biomarkers.

Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set to understand the most fundamental processes underlying human genetic variation.

A haplotype-resolved pan-genome of autotetraploid European potato founder lines shows high nucleotide diversity at remarkably low haplotype diversity, which is probably the result of hybridization events with wild potato species, followed by population bottlenecks during domestication and transition to Europe.

In this Journal Club, Minoli Perera reflects on a 2005 sequencing study by Cohen et al., who discovered two common loss-of-function mutations with large effects on plasma cholesterol levels thanks to the inclusion of African American study participants.

The creation of pangenome references for the 2.5 billion people in the Middle East and South Asia will advance precision medicine and promote global health equity.

Lingzhao Fang recalls how a 2002 paper by Brem et al., which investigated the genetic basis of natural variation in gene expression in budding yeast, and the GTEx atlas of genetic regulatory effects across human tissues inspired the FarmGTEx project to accelerate precision agriculture.

Bolognini et al. report evidence of positive selection for human amylase gene duplications associated with the agricultural revolution.