A novel system for human whole-genome structural variation analysis - Electronic genome mapping for assembly and structural variant detection
Join us at a webinar hosted by Nature Research Custom Media.
Register at https://www.workcast.com/register?cpak=6892953552408046
Date/Time
May 9, 2023 8AM PDT | 11AM EDT | 4PM BST | 5PM CEST
Abstract
Structural variants (SV) are queried and therefore analyzed far less frequently than single nucleotide variants (SNV) in both clinical and research settings. This is despite the fact that SVs are widely recognized as drivers of constitutional disease and cancer as well as being responsible for 5 times more human genomic variability than SNVs alone. The reason for this disparity is apparent in the genomics tools landscape in which there is a trade-off between cost and the length scales on which genomic variation can be queried.
This webcast will present Nabsys electronic genome mapping, a novel system for high-definition human whole genome analysis that enables the query of structural variation. By employing electronic detection as opposed to optical detection, HD-Mapping can capture balanced and unbalanced SVs at high resolution in a single run. The higher resolution captures repeat expansions and contractions at small enough intervals to be complementary to short read sequencing with reads long enough to capture large chromosomal rearrangements all at low and attractive price per genome analyzed.
At this webinar, you can explore
- Electronic mapping technology and how it is used for genome assembly and structural variant detection
- Compare/contrast to other long and short read platforms being used for SV analysis
- What’s next for electronic genome mapping
Presenters
Dr. John Oliver, Chief Technology Officer, Nabsys
Moderator
Moderator: Sarah Hiddleston, Science Journalist, Nature Research Custom Media