News & Comment

  • Research Highlight |

    A recent study re-casts proteomic analyses as a DNA sequencing problem; by fusing in vivo-expressed proteins to their encoding mRNA, molecular interactions can be identified and quantified through high-throughput nucleic-acid sequencing.

    • Linda Koch
  • Research Highlight |

    The GTEx consortium reports results from its third and final phase in several new papers. They provide unprecedented detail of human gene expression regulation across tissues.

    • Darren J. Burgess
  • Research Highlight |

    A study in Molecular Biology and Evolution reports de novo genome sequences for 17 bumblebee species spanning all 15 subgenera. This valuable resource should provide a deeper biological understanding of these commercially and ecologically important pollinators.

    • Dorothy Clyde
  • Research Highlight |

    A study in Nature Genetics reports the analysis of 172 whole-genome sequences of indigenous African cattle and identifies loci associated with environmental adaptations among crossbred animals.

    • Linda Koch
  • Research Highlight |

    A study in Science suggests that regeneration-responsive enhancers drive a regeneration response programme (RRP) in killifish and zebrafish and that changes in RRPs might have facilitated the loss of regenerative capacity in vertebrates.

    • Katharine H. Wrighton
  • Research Highlight |

    Two papers in Cell report large-scale genome-wide association studies that provide new insights into the genetic architecture of haematopoietic phenotypes and emphasize the importance of large, diverse data sets.

    • Dorothy Clyde
  • Comment |

    In Africa, there is a disparity in ethics and permission requirements for molecular research on samples from living people versus ancient DNA. At the precipice of the archaeogenomics revolution, heritage agencies require updated policies and procedures for genetic and genomic research on African ancient DNA.

    • Victoria E. Gibbon
  • Editorial |

    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.

  • Research Highlight |

    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.

    • Linda Koch
  • Research Highlight |

    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.

    • Darren J. Burgess
  • Research Highlight |

    A new study in Science uses chromatin accessibility profiles to reveal gene regulatory alterations associated with genetic variants in neuropsychiatric disease.

    • Darren J. Burgess
  • Research Highlight |

    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.

    • Linda Koch
  • Research Highlight |

    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.

    • Dorothy Clyde
  • Comment |

    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.

    • Richard A. Gibbs
  • Research Highlight |

    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.

    • Dorothy Clyde
  • Research Highlight |

    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.

    • Katharine H. Wrighton
  • Research Highlight |

    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.

    • Linda Koch
  • Research Highlight |

    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.

    • Dorothy Clyde
  • Research Highlight |

    A new study in Nature Methods presents the ‘ZipSeq’ spatial transcriptomics approach, whereby patterned illumination is used to print barcodes onto chosen tissue regions.

    • Darren J. Burgess
  • Research Highlight |

    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.

    • Joseph Willson
  • Comment |

    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.

    • Yvonne Bombard
    •  & Robin Z. Hayeems
  • Research Highlight |

    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.

    • Darren J. Burgess
  • Research Highlight |

    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.

    • Dorothy Clyde
  • Research Highlight |

    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.

    • Dorothy Clyde
  • Research Highlight |

    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.

    • Linda Koch
  • Research Highlight |

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

    • Linda Koch
  • Research Highlight |

    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.

    • Darren J. Burgess
  • Research Highlight |

    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.

    • Dorothy Clyde
  • Research Highlight |

    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.

    • Linda Koch
  • Research Highlight |

    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.

    • Darren J. Burgess
  • Comment |

    Comparative studies struggle to balance technical properties with the need to obtain samples from multiple species. The authors argue for extensive record keeping and reporting of metadata to minimize the effect of confounders and increase the robustness of inferences from these studies.

    • Joanna L. Kelley
    •  & Yoav Gilad
  • Editorial |

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

  • Research Highlight |

    A study in Nature provides new insights into chromatin dynamics and allele-specific gene expression regulation during early mouse embryogenesis.

    • Linda Koch
  • Research Highlight |

    A study in Science shows that anthropologically informed approaches to genome sequencing can provide a fuller understanding of human genetic variation, including new insights into how past events have led to present-day population structure.

    • Dorothy Clyde
  • Research Highlight |

    Two new studies in Nature Biotechnology demonstrate the feasibility of functional genomics systems beyond Cas9: a combinatorial DNA editing system involving both Cas9 and Cas12a, and an RNA-targeted system based on Cas13.

    • Darren J. Burgess
  • Research Highlight |

    A study in Cell describes a novel, highly scalable CRISPR–Cas9-based assay and its use in assessing the role of enhancer mutations in mammalian limb development.

    • Joseph Willson
  • Research Highlight |

    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.

    • Linda Koch
  • Research Highlight |

    RNA interference screening in Caenorhabditis elegans has identified two repressive epigenetic regulators of age-related behavioural performance that are conserved in mammals.

    • Linda Koch
  • Research Highlight |

    Two new studies in Science combine single-cell RNA sequencing with either lineage tracing or a computational framework to link transcriptomes to future developmental trajectories.

    • Darren J. Burgess
  • Research Highlight |

    Pathogens are wreaking havoc on bee populations. A study in Science describes how bacteria in the guts of bees can be engineered to protect their hosts from two particular pests, deformed wing virus and Varroa mites.

    • Dorothy Clyde
  • Research Highlight |

    Two new studies in Molecular Cell report a role for antisense oligonucleotides in inducing transcriptional termination, with important implications for the interpretation of functional studies of long non-coding RNAs.

    • Darren J. Burgess
  • Research Highlight |

    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.

    • Linda Koch
  • Comment |

    Direct-to-consumer epigenetic tests have the potential to reveal sensitive information about individuals, such as disease risk and exposure history. Yet regulation lags behind purely genetics-based tests. In this Comment article, the authors discuss the salient ethical and legal considerations of direct-to-consumer epigenetic tests.

    • Charles Dupras
    • , Elisabeth Beauchamp
    •  & Yann Joly
  • Research Highlight |

    Two new studies on snake venom glands have implications for improved anti-venom development. One describes the de novo assembly of an Indian cobra reference genome and venom gland transcriptome; the other describes the derivation of snake venom gland organoids.

    • Dorothy Clyde
  • Research Highlight |

    A study in Nature reveals an epigenetic mechanism that supports the idea of a ‘default’ path of cell differentiation during gastrulation.

    • Joseph Willson
  • Research Highlight |

    A large-scale single-cell genomics study of planktonic bacteria and archaea that inhabit the surface ocean broadens insights into the heterogeneity and genomic composition of this marine microbiome.

    • Linda Koch
  • Research Highlight |

    A study in Cell identifies a mechanism by which exon splicing can increase gene expression through the activation of weak upstream promoters.

    • Joseph Willson
  • Research Highlight |

    A new study in Science has mapped regulatory elements for major cell types of the human brain to help elucidate the transcriptional mechanisms underlying their developmental and functional properties in health and disease.

    • Linda Koch