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Recent studies have revealed the genome-wide reprogramming of gene expression upon exposure to stress, such as acute heat stress. Here, the authors review the molecular mechanisms that underlie stress-induced changes at promoters, enhancers and untranscribed loci.
This article discusses how integrating different omics data types — such as DNA sequencing, transcriptomics and metabolomics — can provide a rich view of healthy and disease states, including novel clinical diagnoses. The authors discuss the value of the different data types, as well as strategies, considerations and challenges for multi-omic integration in various disease contexts.
Adult stem cells are essential for the maintenance of tissue homeostasis and wound repair, but cancer can hijack their tissue regenerative functions to promote malignancy. Ge and Fuchs review recent insights into the determinants and general principles underlying stem cell plasticity under homeostasis, stress and cancer.
DNA repeats are more liable to mutation than other genetic variants, which enables them to mediate genetic plasticity. The expansion of tandem repeats can cause a range of monogenic disorders, contribute to the missing heritability of polygenic disorders and regulate gene expression, as well as RNA and protein function, in healthy individuals.
The emerging field of paediatric genomics has leveraged the power of next-generation sequencing technologies to improve the diagnostic rates of rare disease in children. This Review addresses key considerations for safe and effective implementation of genomics in the clinic.
Next-generation sequencing technologies have fuelled a rapid rise in data, which require vast computational resources to store and analyse. This Review discusses the role of cloud computing in genomics research to facilitate data sharing and new analyses of archived sequencing data, as well as large-scale international collaborations.
Runs of homozygosity (ROH) are genomic regions of homozygosity where the identical maternal and paternal haplotypes are descended from a shared common ancestor, and they are well known to occur as a result of inbreeding. This article discusses strategies for detecting ROH, their underappreciated prevalence across diverse outbred populations and implications for complex traits and human disease.
Recent genome-wide association studies have catapulted the search for genes underlying human intelligence into a new era. Genome-wide polygenic scores promise to transform research on individual differences in intelligence, but not without societal and ethical implications, as the authors discuss in this Review.
