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Despite their complexity and dynamics, proteomes are starting to be comprehensively characterized; this has been made possible particularly by various technical advances in mass spectrometry. This Review highlights how proteomic studies are contributing to our understanding of various cellular processes in health and disease.
In addition to somatic mutations in tumours, inherited genetic variants can influence how a patient with cancer responds to drug treatment. This Review considers best practice in design and analysis for pharmacogenomic studies to identify such variants, potentially leading to personalized oncology.
This Review discusses the roles of mitochondrial DNA (mtDNA) mutations in human disease. In addition to many primary mitochondrial diseases, there is emerging — and sometimes controversial — evidence that mutations in mtDNA are involved in complex traits such as neurodegeneration, ageing and cancer.
The theoretical principles of adaptive evolution are being put to the test in a growing range of species and populations, particularly with new sequencing technologies and high-throughput experimental methods making headway in this area.
The growing availability of primate genome sequences has allowed an evaluation of the genetic and genomic changes that may have contributed to human-specific traits. This article focuses on these unique changes and the potential mechanisms by which they may have occurred.