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Mechanisms underlying structural variant formation in genomic disorders
#MMPMID26924765
Carvalho CM
; Lupski JR
Nat Rev Genet
2016[Apr]; 17
(4
): 224-38
PMID26924765
show ga
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.