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The identification of mutations that underlie rare diseases has dramatically accelerated in recent years thanks to next-generation sequencing. This Review discusses strategies for further identification studies, insights into disease mechanisms and the clinical implications of the rapid progress in this field of research.
The recent availability of human genomic data has facilitated the search for candidate loci that are linked to adaptive human traits. This Review discusses methods and strategies for identifying these candidate adaptive loci, as well as the insights gained from applying them.
Next-generation sequencing has allowed an unprecedented genomic characterization of diverse cancer types. This Review describes our latest understanding of cancer genomes, including methods to interpret the mutation data, and the emerging biological and clinical implications.
The recent proliferation of omics data has required a toolbox of integrative systems biology bioinformatics approaches to elucidate functional relationships between molecules. Here the authors explain the principles behind these approaches and discuss their applications.
Forces are known to directly shape morphogenesis; however, the role of forces in activating cell signalling in cell fate transitions is less well understood. In this Review, the authors consider the role of mechanics in developmental transitions and propose areas for future study.
