NIST Develops Benchmark for Accurately Detecting Large Genetic Mutations Linked to Major Diseases

Woman in lab coat looks through large book titled "Genome: Volume 1."

Many serious diseases, including autism, schizophrenia and numerous cardiac disorders, are believed to result from mutation of an individual’s DNA. But some large mutations, which still make up only a small fraction of the total human genome, have been surprisingly challenging to detect.

Now, researchers at the National Institute of Standards and Technology (NIST) have developed a way for laboratories to determine how accurately they can detect these mutations, which take the form of large insertions and deletions in the human genome. The new method and the benchmark material enable researchers, clinical labs and commercial technology developers to better identify large genome changes they now miss and will help them reduce false detections of genome changes.