Breaking through the unknowns of the human reference genome

Breaking through the unknowns of the human reference genome

Abstract:

The release of drafts of the human genome in 2001 was a landmark achievement1,2. Scientists could, for the first time, study long stretches of each human chromosome, base by base. As such, researchers could begin to understand how individual genes were ordered, and how the surrounding non-protein-coding DNA was structured and organized. Despite this amazing progress, the draft genomes were still incomplete, with more than 150 million bases missing3. Technological advances in the intervening years have allowed researchers to add to the draft, with the complete sequencing of a chromosome finally being achieved4,5 in 2020. As a result, new and uncharacterized parts of the human genome are beginning to surface, ushering in another exciting period of biological discovery.

Citation:

  • Miga, K.H. (2021). Breaking through the unknowns of the human reference genome. Nature, , 217-218.

Source Link:
https://www.nature.com/articles/d41586-021-00293-8

Keywords

Peoples: | Places: | Topics: | DNA Type: Autosomal DNA, mtDNA, X-DNA, and Y-DNA

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