nano pore sequencing

Karen Miga on the Next Era of Genomics

"Welcome to the era of T2T genomics,” tweeted UCSC’s Karen Miga on August 16th of this year. Then she linked to a paper on bioRxiv that begins:

"After nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no one chromosome has been finished end to end, and hundreds of unresolved gaps persist.”

That would be soon fixed by Karen and her cadre of notables listed at the outset. The paper goes on to present a de novo human genome assembly that “surpasses” the GRCh38 and offers the first gapless, telomere-to-telomere assembly of a human chromosome.

Calling herself a satellite biologist, Karen has been the co-lead of the Telomere to Telomere Consortium. Her passion for quality science along with her up-to-date knowledge of the latest tools (when you google her name, the word "nanopore" often comes up beside it) make her today's torch bearer for the finest in DNA sequencing. She is the the most recent of a number of biologists and bioinformaticians to update us on the “completeness” of the human reference genome.

When will it be finished? What does finished mean? How far does this latest phase get us? And who is paying attention?