Announcing New Validation Results and Publication from Baylor HGSC
Baylor Human Genome Sequencing Center (HGSC) recently published the article, “Assessing structural variation in a personal genome – towards a human reference diploid genome,” which evaluated a number of sequencing and bioinformatics methods to be able to accurately detect structural variants (SVs) including our Anchored Assembly. We are thrilled with the contribution that our software was able to make to HGSC’s efforts to create the “gold standard” set of SVs.
“Spiral provided us with local assembly value from short reads alone. Moving forward, comprehensive whole-genome analysis must be able to accommodate different data types: long-read data might not always be available. We anticipate that Spiral’s advances in assembly-based SV detection will play a big role in our continuing efforts to define a “gold standard” set of SVs.” – Adam English, Lead Bioinformatics Programmer at the Baylor HGSC
Check out our full press release for more information.