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Many disease-associated genetic variants have been identified, but how genetic variation contributes to protection from disease is less well understood. In this Review, the authors discuss the identification and characterization of protective alleles and modifier variants, and the potential implications of these findings for disease prevention and drug development.
With biomedical datasets growing exponentially in size and number, efforts to increase their utility and availability are essential, but much work remains to maximize exploitability. This Review summarizes trends, developments and future perspectives in the rapidly advancing field of human genotype–phenotype databases.
Various methodologies have been developed to characterize diverse features of chromatin, but understanding how epigenomic states contribute to cellular heterogeneity requires adoption of these techniques at the single-cell level. This article discusses the technological developments driving single-cell epigenomics, including the practical and bioinformatic challenges and emerging biological insights.
The rapid accumulation and increasing quality of human DNA sequence-variation data brought about by advances in genome-scale sequencing present opportunities to investigate human evolution. The authors discuss the statistical methods and models that can be used to gain insight into the evolution of human populations from analyses of large-scale genomic data sets, as well as the challenges associated with these approaches.
