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In this Review, Kanieckiet al. discuss how the use of single-molecule optical microscopy and super-resolution optical microscopy methods has benefited our understanding of homologous recombination by generating detailed insights into the molecules and processes involved.
Next-generation sequencing technologies have fuelled a rapid rise in data, which require vast computational resources to store and analyse. This Review discusses the role of cloud computing in genomics research to facilitate data sharing and new analyses of archived sequencing data, as well as large-scale international collaborations.
Runs of homozygosity (ROH) are genomic regions of homozygosity where the identical maternal and paternal haplotypes are descended from a shared common ancestor, and they are well known to occur as a result of inbreeding. This article discusses strategies for detecting ROH, their underappreciated prevalence across diverse outbred populations and implications for complex traits and human disease.
Next-generation sequencing is fuelling a rise in the number of genomic diagnostic tests, which compete with existing interventions for limited health-care budgets. This Perspective presents key approaches and challenges that must be considered by decision-makers assessing the relative cost-effectiveness of new genomic tests.