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The use of next-generation sequencing in paediatric medicine is challenging the prevailing current ethical framework, under which only genetic information that is of immediate benefit to a child's health is disclosed.
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.
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.
The recent explosion of genomics data has prompted the development of advanced algorithmic techniques to aid in the analysis, storage and retrieval of these data in the hunt for answers to biological questions. In this article, several examples of these algorithms are highlighted to aid in the use and selection of such algorithms.
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.
The concepts of orthology and paralogy are fundamental to comparative genomics and are also frequently used for the functional annotation of uncharacterized genes. However, assumptions regarding function have recently been challenged, and the implications of assigning genes as orthologues or paralogues are far from straightforward.
