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Sunday, April 03, 2022

Karen Miga and the telomere-to-telomere consortium

Karen Miga deserves a lot of the credit for the complete human genome sequence.

Karen Miga is a professor at the University of California, Santa Cruz, and she's been working for several years on sequencing the repetitive regions of the genome. She is a co-founder of the telomere-to-telomere consortium that just published a complete sequece of the human genome. She made a signficant contribution to long-read (~20 Kb) and ultra-long-read (>100 kb) sequencing and that's a major technological achievement that's worthy of prizes.

Read the interview on CBC (Canada) Quirks & Quarks at Scientists sequence complete, gap-free human genome for the first time and watch the YouTube video.

Miga did her Ph.D. with Huntington Willard at Duke University. Hunt has been working on centromeres for more than 40 yeas years and some of my colleagues may remember him when he was a professor at the University of Toronto in the Department of Medical Genetics.


SPARC said...

It may be a milestone technically.But scientifically? In one of the papers (DOI: 10.1126/science.abj6987) the authors state the total number of genes in the haploid genome as 63,494 of which 19,969 are protein coding.

SPARC said...

sorry, i didn't see the other post below the folf in which you already referred to the paper and the numbers I mentioned above.