The first complete human reference genome, which can serve as a template for sequencing DNA, corrects errors in the previous reference such as missing or misplaced genetic code.
Credit: B. Hayes/NIST
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.
When clinicians and researchers sequence DNA to study or diagnose a genetic disorder, they use machines that produce strings of DNA, each mirroring a section of a patient’s or research subject’s genome. Then they compare those strings to a template, called a reference genome, to get an idea of what order to place them in.
“If sequencing DNA is like putting together a puzzle, then the reference g ..
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