Karen Miga Fills In Missing Pieces of Our Genome

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In summary, Karen Miga's fascination with highly repetitive sections of DNA led her to lead a coalition of researchers to complete the sequencing of the human genome after almost two decades. Despite the Human Genome Project finishing a rough draft in 2001, Miga knew that the sequencing was far from complete, as only 90% of the genome was sequenced, leaving out the tightly packed heterochromatin sections. In 2018, Miga and Adam Phillippy launched the Telomere-to-Telomere consortium to finally sequence every last nucleotide of human DNA. Miga's work has helped fill in the missing pieces of our genome and is a great achievement in the field of genetics.
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Astronuc

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https://www.quantamagazine.org/karen-miga-fills-in-the-missing-pieces-of-our-genome-20210908/
Driven by her fascination with highly repetitive, hard-to-read parts of our DNA, Karen Miga led a coalition of researchers to finish sequencing the human genome after almost two decades.

By 2001 the Human Genome Project (HGP) had prepared a rough draft, and in April 2003, the draft sequence was declared finished. But Karen Miga, a geneticist now at the University of California, Santa Cruz and the associate director of the UCSC Genomics Institute, knew that while the work might have wrapped up, the sequencing was far from complete.

The HGP was able to sequence the 90% of human DNA that geneticists call euchromatin, which is loosely folded and contains nearly all of the genes that are actively making proteins. But Miga specialized in heterochromatin, the tightly packed sections of DNA with highly repetitive sequences near the ends (telomeres) and centers (centromeres) of chromosomes. At the time, scientists couldn’t sequence heterochromatin, so despite the celebratory hubbub and champagne toasts, almost 10% of the genome went unsequenced.

Together with Adam Phillippy, a computational biologist at the National Human Genome Research Institute, Miga launched the Telomere-to-Telomere (T2T) consortium in 2018 to finally sequence every last nucleotide of human DNA.
 
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I hadn't realized that all of it wasn't sequenced even after all these years. I remember the battle between Venter and Collins of the NIH and how Clinton "brokered" a truce between them. I also remember something about Venter using his own DNA in the sequencing effort.

In any event, this is a great achievement. Devil is in the details and now we know more of them thanks to Karen Miga's work.
 

1. Who is Karen Miga and what is her role in filling in missing pieces of our genome?

Karen Miga is a scientist and researcher at the University of California, Santa Cruz. She is part of the Telomere to Telomere (T2T) consortium, which aims to create a complete and accurate reference genome for humans. Her role in this project is to fill in gaps and missing pieces of our genome using new technology and techniques.

2. Why is it important to have a complete and accurate reference genome for humans?

Having a complete and accurate reference genome for humans is important for many reasons. It can help us better understand human genetic variation and its role in diseases. It can also improve our ability to diagnose and treat genetic disorders. Additionally, having a complete genome can aid in the development of new medical treatments and personalized medicine.

3. How does Karen Miga and her team fill in the missing pieces of our genome?

Miga and her team use a technique called single-molecule, real-time (SMRT) sequencing to fill in the gaps and missing pieces of our genome. This technology allows them to sequence longer pieces of DNA, which helps them accurately assemble the genome. They also use computational tools to analyze and validate the data.

4. What challenges do scientists face when trying to create a complete and accurate reference genome?

One of the main challenges is the repetitive regions of the genome. These regions have highly similar sequences, making it difficult for traditional sequencing methods to accurately map them. Another challenge is the size and complexity of the human genome, which contains over 3 billion base pairs. Additionally, the cost and time required to sequence and analyze the genome can be a barrier.

5. What impact will a complete and accurate reference genome have on future research and advancements in genomics?

A complete and accurate reference genome will have a significant impact on future research and advancements in genomics. It will allow scientists to better understand the genetic basis of diseases and develop more effective treatments. It will also aid in the development of personalized medicine, as well as improve our knowledge of human evolution and variation. Additionally, a complete genome reference will serve as a valuable resource for future studies and discoveries in the field of genetics.

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