Mechanisms underlying structural variant formation in genomic disorders
作者： Claudia M. B. Carvalho , James R. Lupski
DOI: 10.1038/NRG.2015.25
关键词:
摘要: With the recent burst of technological developments in genomics, and clinical implementation genome-wide assays, our understanding molecular basis genomic disorders, specifically contribution structural variation to disease burden, is evolving quickly. Ongoing studies have revealed a ubiquitous role for genome architecture formation variants at given locus, both DNA recombination-based processes replication-based processes. These reports showcase influence repeat sequences on stability variant complexity also highlight tremendous plasticity dynamic nature evolution, health susceptibility.
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