Article
Mechanisms underlying structural variant formation in genomic disorders.
Nature reviews. Genetics - 1 Apr 2016
Carvalho Claudia M B, Lupski James R
Abstract excerpt
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...
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