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This Review discusses the considerations for designing cancer genome-sequencing studies to fulfil different study aims, such as detecting recurrent mutations or assessing clonal evolution. For example, the cohort type and depth of sequencing can influence the downstream analysis.
Mosaicism refers to genetic heterogeneity within an organism that arises from postzygotic mutational events. This Review describes our latest understanding of the diverse types and widespread nature of mosaicism that underlies normal human variation and, in particular, a wide range of clinical diseases.
Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have revealed mutations in chromatin-modifying enzymes, such as chromatin remodellers and histone-modifying enzymes. Such studies are improving our understanding of the roles of these modifiers in human neurodevelopment, and this article discusses the emerging roles for several of these enzymes in development and disease.
Evolution by natural selection at genomic loci sculpts the sequence features of not just each immediate locus but also nearby chromosomally linked sites. However, the way that this occurs substantially varies among different species, and this Review discusses potential reasons for these disparities.
RNA-binding proteins (RBPs) are crucial for guiding mRNAs through the many steps from transcription to translation and decay. This Review discusses recent insights into the repertoire of RBPs, how they package RNA molecules and how they can connect different processing steps.
Functional interactions between proteins and within proteins results in co-evolutionary signatures in amino acid sequences that serve as clues to various forms of interdependence. This Review discusses the principles and distinctions of the large range of computational tools to analyse protein co-evolution and the biological insight that they are providing.
Advances in epigenomic and genetic studies have shown that DNA methylation undergoes local and global changes during mammalian development. This Review discusses the dynamics of this important epigenetic modification across various developmental stages.
Bacterial chromosomes were originally thought to be unstructured and largely unconstrained, but recent advances have supplemented historical research to reveal a highly structured and dynamic chromosome organization. This Review discusses our latest understanding of bacterial chromosome organization, including how the simultaneous nature of DNA replication and chromosome segregation in bacteria necessitates intricate interplay between these processes.
Comparisons of quantitative trait (QST) and neutral molecular marker (FST) divergence allow genetic drift and natural selection to be distinguished between as causes of population differentiation. QST–FSTcomparisons are being increasingly used to tackle a range of evolutionary and ecological questions.
A key challenge in genetics is predicting variation in phenotypic traits from the genome sequences of individuals. Work in model organisms indicates that a combination of genetic information andin vivomeasurements of biological states will be essential for useful phenotypic predictions, including in humans.
As the use of next-generation sequencing has proliferated, so has the range of sequencing applications and software tools that are available for assembling sequences. To help readers to make informed choices about assembly techniques, this Review discusses the available options and practical trade-offs.
Heritability estimates provide a useful means of understanding the genetic and environmental contributions to phenotypic variance. The authors define heritability, discuss how to estimate and interpret it in the context of disease and examine how biases in heritability estimates arise.
The Y chromosomes of many species, including humans, are gene-poor and degenerate. The recent application of genome-wide technologies to evolutionarily old and young Y chromosomes has provided insight into the processes that have shaped them and their future.
In addition to well-known roles in the cytoplasm, a growing number of functions for small RNAs in the nucleus are being discovered. These include roles in transcriptional repression, epigenetic modifications and genome stability. This Review considers examples from animals, plants and fungi.
With the increased cataloguing of human structural variants, our understanding of their influence on phenotype is ever improving. Here, the influence of structural variants on phenotypes including disease is discussed, and strategies for further characterization are presented.
