News & Comment

A paper in Molecular Cell reports the characterization of a second functional light strand promoter (LSP2) in the mitochondrial genome, challenging the view that mitochondrial DNA replication and gene expression are coupled by their reliance on a single light strand promoter (LSP).

Four papers in Science use single-cell, single-nucleus and spatial transcriptomic profiling of reptilian and amphibian brain tissue to provide insights into the evolution of vertebrate forebrains.

By studying the closest extant unicellular relatives of animals and fungi, a study in Nature contrasts the evolutionary trajectories leading to the origin of these groups.

Cooper et al. report in Science the use of massively parallel reporter assays and CRISPR-based validation to characterize the function of noncoding variants in dementia.

A new study in Cell has characterized genome-wide dosage sensitivity for 54 human disorders, providing insight into the causal genes and disease mechanisms associated with rare copy-number variants.

Three studies in Nature identify ZBP1 recognition of endogenous Z-RNA as mediating the autoinflammatory effects of ADAR mutation.

The COVID-19 pandemic has highlighted the challenges and opportunities of our inter-connected world in responding to global crises.

A study in Nature describes ‘DNA Typewriter’, a prime-editing-based DNA recording technology that can capture the order of large numbers of distinct molecular events in mammalian cells.

Two recent studies report microbial genome and gene catalogues that archive oceanic and glacial genomic and functional diversity at scale and yield insights into their biosynthetic potential.

Steiner highlights a study by Protacio et al., which has identified molecular mechanisms underlying the plasticity of meiotic recombination in Schizosaccharomyces pombe.

Two new papers in Nature report copy-number-based classification systems across cancer types that provide routes for personalized therapy.

A report in Cell takes single-cell CRISPR screens to genome scale and demonstrates how the transcriptional phenotypes can be used to resolve gene functions.

In this Comment, the authors highlight caveats about using African ethnicities as population categories in genomics research and emphasize the need for an Africa-oriented humanities research agenda to inform genomics research.

Somatic mutations accumulate with age in the genome of healthy individuals. Franco and Eriksson posit that recent sequencing data indicate a functional role for this increased mutational load in ageing and age-associated diseases.

In this Editorial, we reflect on the field’s responsibility around the potential uses and abuses of genetics and genomics research.

In this Journal Club, Itay Tirosh highlights a 2011 publication by Gupta et al., which showed that cells undergo frequent stochastic transitions between distinct states in breast cancer cell lines.

Gegenhuber et al. now show that, in mice, a neonatal surge in oestradiol activates oestrogen receptor-α to drive a sustained male-typical gene expression programme that determines brain sexual differentiation.

To mark the bicentenary of Gregor Mendel’s birth, the authors reflect on progress in the application of genetics and genomics to delivering a cure for sickle cell disease, a classic Mendelian disorder.

A new study presents GLUE (graph-linked unified embedding), a generalizable computational framework for integrating unpaired single-cell multi-omics data and for inferring regulatory interactions.

A recent study reports the development of Stereo-seq (spatial enhanced resolution omics-sequencing) and its application to generate a spatiotemporal transcriptomic atlas of mouse organogenesis.