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The wealth of existing and emerging DNA-sequencing data provides an opportunity for a comprehensive understanding of human genetic variation, including the discovery of disease-causing variants. This Review describes how the limitations of current reference-genome assemblies confound the characterization of genetic variation and how this can be mitigated by important advances in algorithms and sequencing technology that facilitate thede novoassembly of genomes.
In this Review, the authors discuss the concept, and possible mechanisms, of non-genetic transgenerational inheritance. They outline the evidence to date that environmental factors can influence behaviour across generations in mammals through the modification of epigenetic marks and/or non-coding RNAs.
In diploid organisms, expression from only one allele is frequently observed. This Review focuses on the widespread random monoallelic expression (RME) of autosomal genes, highlighting both the mitotically stable form observed in bulk analyses of cell populations and the recently discovered dynamic form identified through single-cell studies. The article also addresses the implications of different experimental criteria for calling monoallelic expression and potential biological roles in disease manifestations.
The recent rise in obesity and its associated diseases has sparked intensive research into the transcriptional control of metabolic processes, collectively termed energy homeostasis. The authors review our current understanding of transcriptional and epigenetic regulators of energy homeostasis and crosstalk between pathways, and provide insights into emerging developments and challenges in this field.
