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Two new papers in Nature Biotechnology report methods for targeted sequencing of complex DNA samples, achieved in real time during nanopore sequencing runs.
An article in Cell describes a multi-omic analysis of health risks from spaceflights that implicates mitochondrial stress and dysregulation as key drivers.
A study in Genome Biology uses EpiGo-KRAB to analyse the roles of H3K9me3 in genome organization and transcriptional repression and reveals the two functions may be distinct.
Two studies in Nature report regulatory roles for H1 in chromatin compaction and 3D genome organization and establish H1 mutations as a driver of tumorigenesis.
Jin et al. describe a barcoding approach for analysing metastasis, which they used to generate an organ-specific metastasis map for 500 cancer cell lines.
A new study in Nature demonstrates that re-setting the epigenetic age of retinal ganglion cells re-establishes youthful gene expression programmes and restores vision in glaucomatous and aged mice.
The ability to reprogramme cellular translation and genomes to produce non-canonical biopolymers has wide-ranging applications, including in therapeutics, but has yet to be fully realized. In this Review, de la Torre and Chin discuss recent advances towards achieving this goal.
A study in Nature Biotechnology presents a library of transcription factors that are able to induce differentiation of human induced pluripotent stem cells as a resource for cell and tissue engineering.
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.
Infectious diseases are an ever-present global threat. In this Review, Kwok, Mentzer and Knight discuss our latest understanding of how human genetics influence susceptibility to disease. Furthermore, they discuss emerging progress in the interplay between host and pathogen genetics, molecular responses to infection and vaccination, and opportunities to bring these aspects together for rapid responses to emerging diseases such as COVID-19.
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.
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.
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.
Two new reports in Cell use genome-wide CRISPR screens to uncover host determinants of coronavirus infection, identifying potential leads for antiviral therapeutics.
RNA-binding proteins (RBPs) are critical effectors of gene expression, and their malfunction underlies many diseases. The authors review the role of RBPs in human genetic disorders, both Mendelian and somatic, discuss the molecular mechanisms of disease and highlight emerging therapeutic interventions that target RBPs.