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This Review discusses the importance of understanding the mechanisms by which specific allelic variants and allelic combinations cause disease for accurately diagnosing, treating and counselling individuals with genetic disorders.
In this Review, the authors discuss our latest understanding of evolutionary genetic changes that are specific to humans, which might endow uniquely human traits and capabilities. They describe how new cellular and molecular approaches are helping to decipher the functional implications of these human-specific changes.
Environmental pollutants have been shown to disrupt molecular mechanisms underlying common complex diseases. The authors review the interplay of environmental stressors with the human genome and epigenome as well as other molecular processes, such as production of extracellular vesicles, epitranscriptomic changes and mitochondrial changes, through which the environment can exert its effects.
In this Review, Munir Pirmohamed provides an overview of the current state of the pharmacogenomics field, using examples of clinically relevant drug–gene associations, before outlining the steps needed for implementation of pharmacogenomics into clinical practice. The role of pharmacogenomics in drug discovery and development is also considered.
The ability to map DNA and RNA modifications has improved our understanding of these marks, but in some cases inconsistent results have been problematic. Here, Kong et al. discuss how to recognize and resolve issues associated with commonly used sequencing-based approaches to minimize mapping errors.
Macroautophagy and microautophagy involve characteristic membrane dynamics regulated by autophagy-related proteins to degrade cytoplasmic material in lysosomes. In this Review, the authors summarize recent progress in elucidating these highly conserved processes, the pathological relevance of autophagy-related genes in Mendelian and complex diseases, and the evolution of the autophagy pathway.
The vast combinatorial sequence space of RNAs has prohibited quantitative mapping from nucleotide sequence to structure and function. New biochemical methods in vitro, which carry out measurements on hundreds of thousands of molecules at the same time, are now beginning to solve this issue.
In this Review, the authors describe how advances in comparative primate genomics — complemented by multi-layered omic resources and primate cell systems — are providing insights into the evolution of primates and the genetic underpinnings of key traits of developmental and biomedical importance.
