Format

Send to

Choose Destination
Nat Rev Genet. 2016 Apr;17(4):224-38. doi: 10.1038/nrg.2015.25. Epub 2016 Feb 29.

Mechanisms underlying structural variant formation in genomic disorders.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
2
Centro de Pesquisas René Rachou - FIOCRUZ, Belo Horizonte, MG 30190-002, Brazil.
3
Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.
4
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.
5
Texas Children's Hospital, Houston, Texas 77030, USA.

Abstract

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.

PMID:
26924765
PMCID:
PMC4827625
DOI:
10.1038/nrg.2015.25
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center