This Review discusses how rare-disease-causing variants in the noncoding genome impact gene regulation, why these examples are so few and how new approaches could accelerate discovery of noncoding var...

Whole-brain activity mapping, targeted cell manipulations and electrophysiology in mice identify wake-activated neuronal populations that are crucial for sleep drive and can persistently red...

Using 4C technology, higher-order topological features of the pluripotent genome are identified; in pluripotent stem cells, Nanog clusters specifically with other pluripotency genes and this clustering is centred around Nanog-binding sites, suggesting that Nanog helps to shape the three-dimensional structure of the pluripotent genome and thereby contributes to the robustness of the pluripotent state.

The complete cell lineage of C. elegans, mapped over four decades ago, was tractable because the animal is small, transparent, and lineage invariant. Most animals are none of these, having orders of m...

The bacteriophage ΦX174 was the first genome to be sequenced and the first to be chemically synthesised. Here we present a complete map of the consequences of changing every nucleotide in the ΦX174 ge...

Variants and Us (VUS) Podcast · Episode

Current single-cell atlases of mouse embryos are limited in temporal resolution and cellular or sequencing depth coverage. Here we report the mouse developmental Cell and Lineage Atlas (mdCLA), which covers 37 time points across the entire embryonic development from the 2-cell stage (E1.5) to birth (E19.0), with two million cells and a median of 4,500 genes detected per cell. The temporal coverage and data quality of mdCLA surpass the existing mouse embryonic atlases, enabling the identification of organ-specific cell type and gene expression. Using mdCLA, we uncovered divergent gene expression profiles between early and late-stage metanephric progenitor populations, marked by the upregulation of epithelial differentiation and immune response pathways in the late-stage population. Moreover, by analysing the newly generated cell types over time, we revealed an epithelium-specific accelerated differentiation process that occurs after E14.5. The transcription factor upregulated during lat

The comprehensive spatiotemporal atlas of gene expression during early human embryonic development is critical for insights into embryogenesis1, organogenesis2 and disease origins3,4. Here, leveraging Stereo-seq technology, we generated spatial transcriptomic profiles across 77 sagittal sections of 13 whole-human embryos ranging from Carnegie stage 12 to 23, integrated with single-nucleus RNA sequencing to elucidate gene expression patterns within defined cellular contexts, revealing the cellular heterogeneity that drives organ-specific differentiation. Our study has established a regulatory profile for the development of 50 organs and 198 substructures, and identified potential tissue-identity regulators. Of note, it uncovered previously uncharacterized gene functions in cardiac and brain development. The atlas not only substantiates and refines the current understanding of human organ development but also highlights key organs susceptible to genetic disorders. Furthermore, we charact

With the far-right Alternative for Germany leading in polls for national and state elections, institutions are facing up to proposed restrictions on academic freedom.

Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haploty...

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Multimodal lineage tracing links heritable ancestry with single-cell molecular states to reveal how cell fates emerge during development, regeneration and disease. In this Review, the authors survey k...

Researchers are gaining a new appreciation for the genes on the X and Y chromosomes and how they shape sex differences in health and disease susceptibility.