Caister Academic Press

Identification of Structural Variation

Suzanne S. Sindi and Benjamin J. Raphael
from: Genome Analysis: Current Procedures and Applications (Edited by: Maria S. Poptsova). Caister Academic Press, U.K. (2014)


Structural variation, rearrangements of DNA sequences, has long been observed by chromosomal assays. With recent advances in high-throughput DNA sequencing, the ability to identify structural variation (SV) in genome sequences has improved considerably. Sequence-based methods for identifying SVs have greatly improved our knowledge of genomic variation in humans and other species. DNA sequencing data from an individual genome contains multiple possible signals that indicate SVs in this genome, and these signals must be analyzed and integrated using various computational techniques. Here we will give an overview of SV discovery methods from sequencing data using and remark on the challenges remaining read more ...
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