The more accurate template can improve our DNA sequencing capabilities by leaps and bounds.

View as a Web Page First Complete Human Genome Poised to Strengthen Genetic Analysis, NIST Study Shows Alongside the newly updated human genome, which fills in long-standing gaps to fully spell out the more than 3 billion letters that compose our genetic code, a separate companion study has shown it can serve as an accurate template that improves our DNA sequencing capabilities by leaps and bounds. A group within the Telomere-to-Telomere (T2T) consortium — the initiative that completed the genome — led by the National Institute of Standards and Technology (NIST), Johns Hopkins University and the University of California, Davis, tested the full genome's ability to support the sequencing of DNA from thousands of people. In a new paper published in the journal Science, the researchers found that it corrected tens of thousands of errors produced by the previous rendition of the genome and was better for the analysis of more than 200 genes of medical relevance. The findings suggest that the T2T's genome could greatly propel research into genetic disorders, and that further in the future, patients might reap the benefits of more reliable diagnoses. Read More IN CASE YOU MISSED IT New Benchmark Could Improve Detection of Genetic Variants Linked to Spinal Muscular Atrophy, Other Diseases Feb. 7, 2022 The stretches of DNA that differ from person to person, called variants, are a major part of what makes us unique, but they can also put us at greater risk of disease. Although we can currently spell out between 80% and 90% of the millions that are in the human genome, the remaining variants may hold clues for treating an array of diseases. Today the list of variants yet to be decoded has shrunk sizably. Read More

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