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Gene loss is emerging as a pervasive source of genetic variation. The authors review the mechanisms by which gene loss has influenced evolution of different species and discuss insights from comparative population genomics studies of gene loss. Further, they highlight future directions for the study of gene losses and their relevance in evolutionary biology and biomedicine.
Common diseases have complex aetiology involving the interplay of genetic susceptibility and environmental risk factors. Here, the authors describe methods for building and evaluating models for the prediction of disease risk based on information from genetic testing and environmental factors, and use case studies to illustrate the potential of such models in the prevention of diseases.
Advances in transcriptomics and analysis have identified thousands of previously unknown non-canonical splicing events. In this Review, the authors discuss the mechanisms and functions of these events and their roles in a variety of diseases. They explain how non-canonical splicing mechanisms can be targeted or exploited for therapeutic strategies.
The degree of genetic diversity differs greatly among species and across genomic loci within genomes. The wide ranges in genetic diversity have important implications, including for evolution, conservation and management of wild and domesticated species. In this Review, the authors discuss how genome-scale sequencing strategies are providing insight into the varied determinants of genetic variation both among species and across genomic regions.
