Today is DNA Day, and we’re taking the opportunity to support the humane treatment of DNA. After all these years of harshly shearing these molecules and fragmenting them down to just a few hundred bases, can’t we agree that there are nicer ways to treat them? (Yeah, we know that for some applications, you really do need teeny tiny pieces of DNA. We get it.)
For many applications — particularly long-read sequencing and long-range technologies such as optical mapping — it’s actually better to leave DNA as intact as possible. Just a little gentle cleaving, and you wind up with extremely long DNA fragments that produce optimal results. By preserving these molecules as much as possible, we can detect large structural variants, phase distant SNPs, accurately count copy numbers, and much more.
Large input DNA is responsible for major advances in genomics, such as the most contiguous assemblies yet for humans and other mammals. These reference-grade assemblies have been tremendously useful for filling in blanks left by previous sequencing attempts using short reads, allowing scientists to discover new genomic elements — including entire genes — that had been missed with other approaches.
High molecular weight libraries are also being used for newer interrogations of the regions of DNA that touch when the molecule is folded in the nucleus. After decades of only studying DNA in linear order, we’re getting amazing new insights from approaches like proximity ligation mapping. Discoveries like this tell us that DNA is probably harboring even more fascinating secrets, and we just need to find the right ways of asking questions.
And perhaps it all begins with better treatment of your DNA molecules! We hope you’re celebrating DNA Day today. From all of us at Sage, happy HMW DNA to you!