Finally: whole genome sequences that are whole

I started my genomics career literally at a time when the first eukaryotic genome sequence was published (yeast, 1996). My PhD thesis was titled ‘The molecular evolution of eukaryotic genomes’ which focused on the aforementioned yeast (Saccharomyces cerevisiae) and the first multicellular, and first animal, genome sequence of everyone’s favourite nematode Caenorhabditis elegans (published 1998).

The first plant genome sequence (Arabidopsis thaliana) was finished as I was writing my PhD thesis (published November 2000) and that genome became the focus of my first post-PhD job (working on developing genomic resources for UK CropNet - link from archive.org).

We then entered a long period where published genome sequences were often described as ‘draft’ or ‘near complete’. I have written about this a lot over the years, e.g.

So I was delighted to see the news this week of a collection of ‘T2T’ (Telomere 2 Telomere) genome sequences that have been published in Cell by the Telomere to Telomere Consortium. You should all read the commentary piece by Adam Phillippy et al.: Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere.

Quoting from the introduction (emphasis theirs):

As first stated in the 1980s, the aspirational goal of the Human Genome Project was “to obtain the complete nucleotide sequence of the human genome”

Most genomes published since that goal was declared were objectively far from complete. They were certainly useful and empowering for biology, just rarely complete.

Quoting from the end of the above paper:

These advances are already revealing features of genome organization and regulation within the previously dark regions of the genome and will undoubtedly improve the accuracy of future predictive models, signaling a bright future in which we can move beyond sequencing whole genomes and toward understanding whole genomes.

Complete genome sequences are here. These are sequences that can now capture the intricacies of the diploid nature of genomes. Anyone today starting a PhD that wants to look at ‘The molecular evolution of eukaryotic genomes’ has a much tougher challenge than I did (when N=2) but hopefully, they will be able to tell a much richer, and complete, story than I was ever able to.

Congratulations to all involved in this project!