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On the occasion of Gregor Mendel’s bicentenary, the authors reflect on the history of the terms dominant and recessive, and their current use in medical genetics.
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.
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.
In this Journal Club, Ambroise Wonkam describes how whole-exome sequencing of genetically diverse populations of African ancestry can provide insights into both complex and Mendelian disease.
Elizabeth Mason recalls a seminal study by Raj et al., who used single-molecule approaches to expose principles governing how genes in a network cooperate to buffer perturbation while maintaining essential cellular functions.
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.
Levo et al. used quantitative single-cell live imaging to analyse the transcriptional dynamics of fly paralogues separated by long genomic distances, to determine whether they are co-regulated.
Gene loss is followed by the rapid emergence of new phenotypes owing to compensatory evolution, finds a recent study using experimental evolution of budding yeast lineages.
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.
Single-cell transcriptomics is beginning to systematically define commonalities but also heterogeneity within and between organs for multiple human cell types. Here, the authors review emerging biological insights from cross-tissue single-cell transcriptomic studies into epithelial, fibroblast, vascular and immune cells.
In this Review, Boulias and Greer provide an overview of current approaches for detecting and mapping N6-methyl-2′-deoxyadenosine (6mA or m6dA), and discuss the evidence for its presence and functional importance in the genomes of multicellular eukaryotes.
In this Review, the authors describe technical and legal protection mechanisms for mitigating vulnerabilities in genomic data privacy. They also discuss how these protections are dependent on the context of data use such as in research, health care, direct-to-consumer testing or forensic investigations.
Commemorating the 200th birthday of Gregor Mendel, Kim Nasmyth reflects on Mendel’s life and legacy and how his work has shaped and defined the field of modern genetics.
