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A collection of articles in Nature describe insights into disease-associated genetic variants obtained from the genetically isolated Finnish population.
A paper in Science reports that circadian gene expression in humans is affected by sex and age, findings that might explain differential disease prevalence among these groups and have implications for treatment.
Riccardo Marioni discusses how the publication of Horvath’s epigenetic clock has affected research into ageing, rejuvenation and epigenetic epidemiology.
Non-B DNA secondary structures, such as G quadruplexes, H-DNA or Z-DNA, have key roles in genetic instability and disease aetiology. The authors review the impact of non-B DNA on transcription, replication, recombination and DNA damage and repair, the mechanisms of non-B DNA-induced mutagenesis and the role of non-B DNA sequences in human disease.
In this Review, Berger and Yu discuss how the sheer amounts of sequence data create bottlenecks in downstream analytical pipelines that must be overcome by new analysis strategies, each with their own trade-offs for properties such as speed, accuracy and applicability.
Alternative splicing of pre-mRNAs is key for cellular function and underpins the aetiology of numerous diseases. Here, we review major advances in understanding the structures and functions of the splicing machinery and its regulation, and in harnessing this knowledge for the design of novel therapies.
