Storylines repeat in genome science every decade or so. The human genome is complete. No. Now it's complete. Or, in the 90's, it was first announced that the first chromosome was sequenced. We have the same story for you today--breaking news from a paper that has not even been published yet: the first “complete” assembly of a human chromosome, end to end, telomere to telomere.
So what’s going on?
As every bioinformatician will tell you: There are levels of completeness. It is these levels of completeness that have kept folks busy at the NHGRI for many years and will for years to come. For in some of the incomplete areas, the "holes", lurk compelling secrets.
“These genome assemblies come out of very complex software, and they often contain numerous errors. And so it's key to go back into the wet lab and validate in any way that we can that our reconstruction is accurate."
That’s today’s guest, Adam Phillippy, who has been at the forefront of bioinformatics for over a decade at the NHGRI and has been an important contributor to the problems of genome assembly. He is the head of the Genome Informatics Section, which he founded.
We jumped at the chance to talk to Adam about his upcoming paper on the now complete X chromosome and the chance to hear his thoughts on the “completeness” of the human reference genome. Adam goes on to tell us that the energy at NHGRI is now shifting toward the Human Pan Genome, an attempt to represent all variations of humanity into the reference genome.
What are the challenges for such a project? And hey Adam, while we have you on, please give us your thoughts on sequencing technologies in 2019 as only a bioinformatician can.