Bring on the New Reference Genome!

GRCh38Like many of our fellow genomics scientists, we are eager to see the much-anticipated new human reference genome. From the Genome Reference Consortium — which consists of the Wellcome Trust Sanger Institute, the Genome Institute at Washington University, the National Center for Biotechnology Information, and the European Bioinformatics Institute — the new GRCh38 reference is expected to be a significant upgrade.

The release has been delayed a bit due to some processing issues, but you can keep an eye out for the new reference via NCBI. Why all the fuss about the latest version? For one thing, it now adds modeled centromeres and novel sequences. Beyond that, it updates for individual bases and fixes for tiling path or assembly errors. (A great overview of GRCh38 is available in this presentation given by NCBI’s Deanna Church in a Cold Spring Harbor workshop this month.) The reference also takes advantage of data from the 1,000 Genomes Project to correct SNPs and indels and to capture decoy sequence.

Scientists across the community are anticipating a computational frenzy once the new reference is released. With all these updates, it’s only natural that researchers with human data sets will want to dust off their sequence data and realign them to the new reference to see what they missed. At the annual meeting of the American Society of Human Genetics in October, Jeff Reid from the Human Genome Sequencing Center at Baylor College of Medicine said he was “terrified” by the idea of how much simultaneous demand he expects for computational resources just from this reference release.

That would indeed be scary for researchers with access only to limited on-premises compute infrastructure. But this is the perfect type of project for elastic cloud computing! No need to stress local resources with a massive burst of intensive demand when you can easily run your reanalysis in the cloud using a platform such as DNAnexus. Our scientific and engineering teams are on standby; just think of us as an extension of your lab offering additional computational resources in a secure and clinically compliant environment.

So bring on GRCh38 — we are ready for it!