Credit: N. Hanacek/NIST
The "book analogy" is a popular way of explaining genome changes. If the human genome is considered a book, a new NIST-developed benchmark will help scientists better detect large chapters that are missing (deleted chapters) or not in the original (inserted chapters).
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.
The researchers present their new benchmark in Nature Biotechnology.
Scientists in the Human Genome Project generated the first reference genome in the late 1990s, pieced together from a collection of genome sequences from different individuals. When scientists sequence DNA, they are essentially randomly chopping up the DNA into smaller pieces, which then need to be pieced back together like a puzzle.
The building blocks of DNA include four types of bases: adenine (A), cytosine (C), guanine (G) and thymine (T), strung together to form 23 chromosomes in human cells. These genetic codes contain all the information of life. To understand the genetic basis for a given disease, scientists sequence a person’s DNA and compare it against a reference genom ..
Support the originator by clicking the read the rest link below.
