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Extreme environmental conditions create stressors that can interact with genetic risk factors to influence health outcomes. In this Comment, the authors discuss their vision for a national programme in Kuwait that combines the genome and exposome to uncover gene–environment interactions and inform tailored disease-prevention strategies.
Transdisciplinary collaboration fuels innovation and discovery. Meller et al. call for broader collaboration at the intersection of genomics, the humanities and social sciences, and wider societal stakeholders, to test new ways of working across disciplines and co-develop future research agendas.
Liyang Song presents gsMap, which integrates spatial transcriptomics (ST) data with GWAS summary statistics to assess whether genetic variants in or near genes specifically expressed in an ST data spot are enriched for genetic associations with a trait of interest.
In this Journal Club, Chikara Furusawa reflects on a 1991 publication by Tom Ray that presented Tierra, an evolvable computer program that pioneered the use of artificial life to study biological phenomena.
Daudi Jjingo highlights a recent publication by Chu et al., who performed an integrative single-cell analysis of human colorectal cancer to characterize the tumour microenvironment (TME) and stratify patients according to their heterogeneous TMEs, which exploit different immune evasion mechanisms.
Disruption of the 3D genome caused by structural variation contributes to developmental disorders and cancer. The authors review the causes and molecular and clinical consequences of position effects arising from disruptions to the genome architecture.
In this Review, Shao et al. discuss experimental and computational advances in single-cell DNA sequencing, insights into somatic genetic variation during normal development and in disease, and the potential use of single-cell somatic mutations for lineage tracing, diagnostics and biomarkers.
In this Review, Rippe and Papantonis describe advances in understanding the role of transcription compartments in gene regulation, specifically by collating and contrasting historical work on transcription factories with more recent work on transcriptional condensates.
Synonymous mutations, once deemed neutral, have been shown to influence gene expression and organismal fitness by affecting transcription, mRNA processing, translation and protein folding. In this Perspective, the authors highlight evidence for fitness effects of synonymous mutations and discuss resulting implications for evolutionary and disease genetics.
