Mechanisms underlying structural variant formation in genomic disorders

Nature Reviews Genetics 17, 224 (2016). doi:10.1038/nrg.2015.25

Authors: Claudia M. B. Carvalho & James R. Lupski

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

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