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Cool story and interesting biology.
https://www.quantamagazine.org/karen-miga-fills-in-the-missing-pieces-of-our-genome-20210908/
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.
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.
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.
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.
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.
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.