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Two new studies report the assembled genomes of the Australian lungfish (Neoceratodus forsteri) and the African lungfish (Protopterus annectens), which provide insights into the water-to-land transition.
The TOPMed consortium report whole-genome sequencing data from 53,831 ethnically diverse participants. They describe the key features of the genetic variation and produce data resources for future medical research by the wider scientific community.
Park et al. describe in Cell how CRISPR–Cas9 genome editing can be used as a time recorder in mammalian cells in vitro and in vivo, including reporting the timescales of cellular events such as chemical exposure and inflammation.
In this paper, the authors present sequence data from ancient mammoth specimens, including samples more than 1 million years old. The sequences provide insights into mammoth evolution and reveal that distinct mammoth lineages were present in eastern Siberia during the Early Pleistocene.
A recent study in Nature presents a method that integrates data from chromosome imaging, nuclear bodies and chromatin states to build a picture of the nuclear layout at the single-cell level.
A report in Molecular Cell describes short capped RNA sequencing (scaRNA-seq), which is used to show that, in differentiating cells, enhancers predominantly regulate gene expression by modulating transcription initiation, and not pause release as previously supposed.
In this Review, Hill et al. discuss how high-throughput methods for creating and characterizing mutations are providing insight into how regulatory variation is generated and evolves.
Haematopoietic stem and progenitor cell (HSPC) gene therapy using lentiviral or gammaretroviral vectors has now been approved for clinical use. In this Review, Ferrari, Thrasher and Aiuti discuss the history of HSPC gene therapy, the clinical promise of gene-editing HPSCs and the use of HSPC gene therapy to treat specific diseases.
In this Review, Carter and Zhao discuss how single-cell sequencing technologies are being applied to investigate epigenetic heterogeneity among seemingly homogeneous populations of cells and how this epigenetic variability relates to cell–cell differences in gene expression.
Although cancer genetics analyses have often focused on individual mutations of classic cancer genes, a wealth of cancer sequencing data are allowing a more comprehensive understanding of the cumulative effects of mutations genome-wide. In this Perspective article, the authors propose how the burden of different types of mutation — from point mutations to large-scale chromosomal aberrations — has distinct and compensatory effects on tumour fitness and selection during different stages of cancer evolution.
