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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.
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 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 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 new study in Science uses chromatin accessibility profiles to reveal gene regulatory alterations associated with genetic variants in neuropsychiatric disease.
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.
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.
To celebrate the first 20 years of Nature Reviews Genetics, we asked 12 leading scientists to reflect on the key challenges and opportunities faced by the field of genetics and genomics.
Long-read sequencing is becoming more accessible and more accurate. In this Review, Logsdon et al. discuss the currently available platforms, how the technologies are being applied to assemble and phase human genomes, and their impact on improving our understanding of human genetic variation.
Data sharing can maximize the benefit and reach of genomics research. However, sharing must occur in a responsible manner, particularly when there are privacy risks to human participants. In this Review, the authors discuss the principles of data sharing, strategies for assessing and mitigating privacy risks, as well as practical guidelines for researchers and wider stakeholders.
Gene expression is typically measured at the level of either mRNAs or proteins. In this Review, Buccitelli and Selbach discuss how large-scale comparative studies are characterizing the degree to which mRNA and protein levels correlate. They discuss technical and biological reasons why mRNA and protein levels may be particularly concordant or disconnected, as well as the different biological information provided by these non-redundant readouts of gene expression.
