Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology.

ABSTRACT:

Background

Structural variants (SVs) are less common than single nucleotide polymorphisms and indels in the population, but collectively account for a significant fraction of genetic polymorphism and diseases. Base pair differences arising from SVs are on a much higher order (>100 fold) than point mutations; however, none of the current detection methods are comprehensive, and currently available methodologies are incapable of providing sufficient resolution and unambiguous information across complex regions in the human genome. To address these challenges, we applied a high-throughput, cost-effective genome mapping technology to comprehensively discover genome-wide SVs and characterize complex regions of the YH genome using long single molecules (>150 kb) in a global fashion.

R

SUBMITTER: Cao H 

PROVIDER: S-EPMC4322599 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature