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.

Now more than ever, digital applications are essential to accessing genetics services and optimizing their delivery. At this watershed moment, digital solutions must be balanced with the merits of human interaction, without compromising quality or exacerbating existing genomic and technological disparities. As highlighted by the COVID-19 pandemic, digital solutions are becoming essential for the provision

Most adaption processes have a polygenic genetic basis, but even with the recent explosive growth of genomic data we are still lacking a unified framework describing the dynamics of selected alleles. Building on recent theoretical and empirical work we introduce the concept of adaptive architecture, which extends the genetic architecture of an adaptive trait by factors influencing its adaptive potential

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.

Transposable elements (TEs) are insertional mutagens that contribute greatly to the plasticity of eukaryotic genomes, influencing the evolution and adaptation of species as well as physiology or disease in individuals. Measuring TE expression helps to understand not only when and where TE mobilization can occur but also how this process alters gene expression, chromatin accessibility or cellular signalling

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.

Cancer ‘genetic dependencies’ — genes whose products are essential for cancer cell fitness — are promising targets for therapeutic development. However, recent evidence has cast doubt on the validity of several putative dependencies that are currently being targeted in cancer clinical trials, underscoring the challenges inherent in correctly identifying cancer-essential genes. Here we review several

It has been 10 years since the introduction of modern transposon-insertion sequencing (TIS) methods, which combine genome-wide transposon mutagenesis with high-throughput sequencing to estimate the fitness contribution or essentiality of each genetic component in a bacterial genome. Four TIS variations were published in 2009: transposon sequencing (Tn-Seq), transposon-directed insertion site sequencing

Genomic imprinting and X-chromosome inactivation (XCI) are classic epigenetic phenomena that involve transcriptional silencing of one parental allele. Germline-derived differential DNA methylation is the best-studied epigenetic mark that initiates imprinting, but evidence indicates that other mechanisms exist. Recent studies have revealed that maternal trimethylation of H3 on lysine 27 (H3K27me3) mediates

Regeneration is the process by which organisms replace lost or damaged tissue, and regenerative capacity can vary greatly among species, tissues and life stages. Tissue regeneration shares certain hallmarks of embryonic development, in that lineage-specific factors can be repurposed upon injury to initiate morphogenesis; however, many differences exist between regeneration and embryogenesis. Recent

Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging regions of the human genome, detect previously

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.

Recombination is a central biological process with implications for many areas in the life sciences. Yet we are only beginning to appreciate variation in the recombination rate along the genome and among individuals, populations and species. Spurred by technological advances, we are now able to bring variation in this key biological parameter to centre stage. Here, we review the conceptual implications

The self-renewal capacity of multipotent haematopoietic stem cells (HSCs) supports blood system homeostasis throughout life and underlies the curative capacity of clinical HSC transplantation therapies. However, despite extensive characterization of the HSC state in the adult bone marrow and embryonic fetal liver, the mechanism of HSC self-renewal has remained elusive. This Review presents our current

A study in Cell Reports describes a machine learning model, named Xpresso, that uses genomic sequence to predict mRNA steady-state abundance.

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.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Two papers in Nature Chemical Biology describe new methods for transcriptome-mapping of N6-methyladenosine (m6A), a covalent modification of RNA. In m6A-SEAL, modified adenosines can be tagged with different functional groups for different applications, whereas m6A-label-seq uses metabolic labelling to achieve single-nucleotide resolution.

Knowing phylogenetic relationships among species is fundamental for many studies in biology. An accurate phylogenetic tree underpins our understanding of the major transitions in evolution, such as the emergence of new body plans or metabolism, and is key to inferring the origin of new genes, detecting molecular adaptation, understanding morphological character evolution and reconstructing demographic

A study reports on the suitability of the yeast Saccharomyces cerevisiae as a platform for the assembly and maintenance of diverse RNA virus genomes, including SARS-CoV-2.

Coloration is an easily quantifiable visual trait that has proven to be a highly tractable system for genetic analysis and for studying adaptive evolution. The application of genomic approaches to evolutionary studies of coloration is providing new insight into the genetic architectures underlying colour traits, including the importance of large-effect mutations and supergenes, the role of development

Two studies in Molecular Cell report fine-scale structural profiles of mammalian genomes using Micro-C, indicating that fine chromosomal structure is regulated by diverse transcription-related features.

Just as humans thrive from being part of a community, genetics and genomics benefit from interdisciplinary collaboration and knowledge integration.

Comparative studies struggle with the challenge of balancing technical properties with the requirement of obtaining samples from multiple species. Guidelines are needed to minimize the effect of confounders and increase the robustness of the inference. We argue for the paramount importance of extensive record keeping and reporting. Comparative studies struggle to balance technical properties with the

A new technology, named PIC-seq, combines cell sorting of physically interacting cells (PICs) with single-cell RNA sequencing and computational modelling to profile cellular interactions and their impact on gene expression.

Private companies have recently started to sell epigenetic tests to the public online, most of them without supervision by a physician. While the ethical and legal implications of direct-to-consumer genetic testing have received considerable attention over the past decades, other direct-to-consumer ‘omic’ tests have largely escaped scrutiny. Direct-to-consumer epigenetic tests have the potential to

A Genome Research study reports gene expression and DNA methylation profiles of multiple tissues sampled from the same individuals across humans, chimpanzees and rhesus macaques.