As of March 31, 2022, NIST announced their newly completed human genome can be used to improve our DNA sequencing abilities. A group within the Telomere-to-Telomere (T2T) consortium led by the National Institute of Standards and Technology (NIST), Johns Hopkins University and the University of California, Davis completed research that demonstrated the full potential of this new sequence to accurately diagnose over 200 medically relevant genes, previously obscured from full understanding. Typically, when sequencing DNA the use of a reference genome is needed to orient and organize a patient’s sequenced genome. However, the original human reference genome lacked nearly 8% of the genome, which, inherently, made it difficult to identify the order of an amplified patient’s genome because it was being done without a complete picture. By bringing many difficult-to-access regions of DNA into the light they were able to reduce, and correct errors found in previous renditions of the human genome. To further test T2T’s genome they analyzed the genome of one individual with 269 genes of known or suspected connections to disease.
“The team paired the references with three different sequencing technologies each. But no matter the approach, T2T’s genome always outperformed its predecessor, even decreasing error by as much as 12 times with one technology.”
By making new regions of DNA, previously thought to be largely inaccessible, the field of genomics and clinical practice has new advances to make in understanding this new reference genome at its full potential.
“‘I think there'll definitely be a lot more work to understand the accuracy of DNA sequences of many individuals in regions of the genome that this reference now makes accessible,’ Zook said.”
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