Mechanisms underlying structural variant formation in genomic disorders

CMB Carvalho, JR Lupski - Nature Reviews Genetics, 2016 - nature.com
Nature Reviews Genetics, 2016nature.com
With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of
genomic disorders, specifically the contribution of structural variation to disease burden, is
evolving quickly. Ongoing studies have revealed a ubiquitous role for genome architecture
in the formation of structural variants at a given locus, both in DNA recombination-based
processes and in replication-based processes. These reports showcase the influence of …
Abstract
With the recent burst of technological developments in genomics, and the clinical implementation of genome-wide assays, our understanding of the molecular basis of genomic disorders, specifically the contribution of structural variation to disease burden, is evolving quickly. Ongoing studies have revealed a ubiquitous role for genome architecture in the formation of structural variants at a given locus, both in DNA recombination-based processes and in replication-based processes. These reports showcase the influence of repeat sequences on genomic stability and structural variant complexity and also highlight the tremendous plasticity and dynamic nature of our genome in evolution, health and disease susceptibility.
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