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Single-cell genome sequencing can provide detailed insights into the composition of single genomes that are not readily apparent when studying bulk cell populations. This Review discusses the considerable technical challenges of amplifying and interrogating genomes from single cells, emerging innovative solutions and various applications in microbiology and human disease, in particular in cancer.
Genomic analyses of cancer genomes have largely focused on mutations in protein-coding regions, but the functional importance of alterations to non-coding regions is becoming increasingly appreciated through whole-genome sequencing. This Review discusses our current understanding of non-coding sequence variants in cancer — both somatic mutations and germline variants, and their interplay — including their identification, computational and experimental evidence for functional impact, and their diverse mechanisms of action for dysregulating coding genes and non-coding RNAs.
Why does the rate of evolution vary among sites within proteins? The authors review the current understanding of site-specific variation, discuss possible limitations of current methods and models, and propose directions for future research.
Technical differences between the many variant methods that are based on restriction site-associated DNA sequencing (RADseq) lead to trade-offs in experimental design and analysis. Here, the authors comprehensively review the various RADseq approaches and provide general considerations for designing a RADseq study.
