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. A team led by researchers at the National Institute of Standards and Technology (NIST), Baylor College of Medicine and DNAnexus has characterized over 20,000 variants in 273 genes of medical importance. In a study published in the journal Nature Biotechnology, the researchers applied both cutting-edge and long-standing DNA sequencing methods to decipher the genetic codes of the variants with a high degree of certainty.
Click here for original story, New benchmark could improve detection of genetic variants linked to spinal muscular atrophy, other diseases
Source: ScienceDaily