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In this Journal Club article, María Ávila-Arcos discusses a paper on a medically relevant genetic variant that was found exclusively in Indigenous populations from the Americas. She describes how this work served as inspiration for the inclusion of more diverse populations in the 1000 Genomes Project.
Jagadeesh, Dey et al. report the development of ‘sc-linker’, an open-source framework that integrates scRNA-seq and GWAS data to identify disease-associated cell types and processes.
A paper in Nature Communications describes a framework for identifying seed traits in food crops that have health-promoting effects on the gut microbiome, with implications for crop improvement approaches.
A report in Molecular Cell identifies six new triggers of target-directed miRNA degradation, which are essential for normal Drosophila melanogaster embryogenesis.
A paper in Cancer Cell reports genetic ancestry-associated differences in clinical outcomes when using tumour mutational burden as a biomarker in the context of immune checkpoint inhibitor therapy.
A new study in Cell describes how topologically associating domains (TADs) of chromosomes can restructure to resolve the regulatory conflict that arises when a new gene incorporates into an ancestral TAD.
Molecular measures of biological ageing based on high-throughput omics technologies are enabling the quantitative characterization of ageing. The authors review how epigenomic, transcriptomic, proteomic, metabolomic and other omics data can be harnessed using machine learning to build ‘ageing clocks’.
In this Review, Isbel et al. describe our current understanding of how transcription factors navigate features of chromatin — particularly DNA methylation and nucleosomes — and how this contributes to specificity of genomic binding and, ultimately, transcriptional regulation.
Spatial omics methods enable the charting of cellular heterogeneity, complex tissue architectures and dynamic changes during development and disease. The authors review the developing landscape of in situ spatial transcriptome, genome and proteome technologies and highlight their impact on basic and translational research.
In this Review, the authors discuss our latest understanding of extrachromosomal DNA (ecDNA), a type of circular DNA element commonly found in cancers. They discuss ecDNA properties, including oncogene amplifications and transcriptional hub formation, as well as opportunities for therapeutic interventions.
