Mechanisms underlying structural variant formation in genomic disorders.
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ABSTRACT:
SUBMITTER: Carvalho CM
PROVIDER: S-EPMC4827625 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Publications
Mechanisms underlying structural variant formation in genomic disorders.
Carvalho Claudia M B CM Lupski James R JR
Nature reviews. Genetics 20160229 4
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 s ...[more]
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