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As Nature Reviews Genetics turns 20 years, the editors embrace the opportunity to pause and reflect on the past, take stock of the present and look to the future. Please join us in celebrating our Anniversary issue.
A study in Cell presents a new approach that increases resolution and throughput compared with existing imaging methods and provides insights into the relationship between transcription and the 3D genome.
A recent study combines CRISPR-based perturbation with single-cell RNA sequencing to characterize the roles of epigenome regulator proteins in controlling cell fate and identity during embryonic development.
A new study in Science uses chromatin accessibility profiles to reveal gene regulatory alterations associated with genetic variants in neuropsychiatric disease.
Reference-quality genomes for six bat species published in Nature yield insights into the evolutionary origins of bats and the molecular basis of adaptive traits involved in immunity and sensory perception.
A study in PNAS describes a maternal-effect killer supergene that regulates social behaviour in Alpine silver ants. Queens carrying the ‘killer’ haplotype fail to produce live progeny homozygous for the alternative haplotype, ensuring all colonies adopt a multiple-queen, rather than single-queen, social structure.
Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the promisesthat this voyage of discovery bore. Its success should be measured by how this project transformed the rules of research, the way of practising biological discovery and the ubiquitous digitization of biological science.
A study in Cell introduces memory sequencing (MemorySeq), a method for identifying genes that are highly and heritably expressed over multiple cell divisions. These expression patterns can reveal cellular subpopulations with distinct phenotypes, such as drug resistance.
A study in Nature describes the assembly of a human genome with greater continuity than the current reference genome, as well as the assembly of a complete human X chromosome. These assemblies were achieved by combining data generated by different long-read sequencing technologies.
A study in Nature analysing genome-wide variation in individuals from islands across Polynesia reports evidence of admixture with Native Americans related to Indigenous inhabitants of northern South America.
Epigenetic clocks translate the DNA methylome into a biological age but usually work only within a species. Now, a study in Cell Systems reports a cross-species epigenetic clock that works across a number of mammals, including humans, dogs and mice.
A new study in Nature Methods presents the ‘ZipSeq’ spatial transcriptomics approach, whereby patterned illumination is used to print barcodes onto chosen tissue regions.
Structural variants have proved difficult to characterize using traditional sequencing approaches. In two new studies in Cell, the authors demonstrate the use of pan-genome approaches to identify and explore the impact of structural variants in crop genomes and reveal variants linked to specific agronomic traits.
As highlighted by the COVID-19 pandemic, digital solutions are becoming essential for the provision of clinical genetics services. However, as this Comment emphasizes, the use of digital tools alone can exacerbate genomic and technological disparities and must be balanced with the merits of face-to-face interactions.
Three new studies in Nature Biotechnology combine the adenine and cytosine deaminase activities of single base editors to generate dual base editor systems for combinatorial editing in human cells.
A study in Nature describes a new method for studying variation in meiosis. Sperm-seq is a single-cell sequencing approach that enables genome-wide analysis of multiple meiotic phenotypes in thousands of sperm simultaneously.
During ageing, many normal human tissues become a patchwork of mutant clones. Colom et al. show that, in mutagenized mouse oesophageal epithelium, this mutational landscape arises through cell competition, with clone fitness determined by the genotype of their neighbours.
A collection of seven articles from the gnomAD consortium, published in Nature, Nature Medicine and Nature Communications, showcases analyses of global human genetic variation in coding and non-coding genomic regions across this data set.
A new study in Cell describes the CRISPR array repair lineage tracing (CARLIN) engineered mouse line that genomically encodes all the components for CRISPR-based lineage tracking at single-cell resolution.
