Supporting material for: "Rapid detection of structural variation in a Human genome using nanochannel-based genome mapping technology".
Dataset type: Genome-Mapping
Data released on December 17, 2014
Anantharaman T; Andrews W; Cao D; Cao H; Cao H; Chan S; Hastie AR; Huang H; Huang S; Krogh A; Lam ET; Lin L; Liu X; Requa M; Sun Y; Tong X; Xu X; Yang H (2014): Supporting material for: "Rapid detection of structural variation in a Human genome using nanochannel-based genome mapping technology". GigaScience Database. http://dx.doi.org/10.5524/100097
The nanochannel-based Genome Mapping technology, commercialized as the Irys Platform,
automatically images fluorescently labeled DNA molecules in a massively parallel
nanochannel array. This technology has previously been used to map the 4.7-Mb highly
variable human MHC region, as well as for de novo assembly of a 2.1-Mb region in the
highly complex Aegilops tauschii genome, lending great promise for use in complete
genome sequence analysis.
Here, we apply this rapid and high-throughput genome mapping method to discern genome wide structural variations (SVs) as well as explore complex regions based on the YH (first Asian genome) cell line.
A structural variant (SV) is generally defined as a region of DNA 1 kb and larger in size that is changed with respect to another sample; examples include inversions, translocations, deletions, duplications and insertions. Deletions and duplications are also referred to as copy number variants (CNVs). Structural variants (SVs) are less common than single nucleotide polymorphisms (SNPs) or insertions/deletions (InDels) in the population but collectively account for a significant fraction of genetic polymorphism and diseases.
Utilizing Genome Mapping, we identified 725 SVs including InDels, inversions as well as SVs involved in N-base gap regions that are difficult to assess by current methods. The data presented here are the processed .tiff image files together with the interpreted .metrics file for each restriction map.
Read the peer-reviewed publication(s):
Cao, H., Hastie, A. R., Cao, D., Lam, E. T., Sun, Y., Huang, H., … Xu, X. (2014). Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology. GigaScience, 3(1). doi:10.1186/2047-217x-3-34