'Measuring stick' for human gene sequencing unveiled

© Gerald Barber, Virginia Tech University
Is this a static TV screen? Nope! It's the end result of the DNA sequencing.

In an attempt to ensure that gene sequencing, medical diagnoses, and personalized therapies of the future are as accurate as possible, the National Institute of Standards and Technology (NIST) has released the first human DNA "measuring stick" to serve as a point of reference.

According to Engadget, the sample genome was thoroughly tested, and will serve to let scientists know whether or not they are making basic mistakes and that their findings can be trusted. NIST hopes that the reference material will enhance the accuracy and reliability of genetic research.

Officially known as NIST RM 8398, the reference material can let a laboratory ensure that the equipment, chemistry, and data analysis involved in determining the patterns in a person's DNA are performing adequately, the Institute said. It also establishes technical benchmarks needed to enable the widespread clinical application of whole genome sequencing.

A prototype version of NIST RM 8398 is already in use. Created in November 2013, the reference genome has been used by the US Food and Drug Administration (FDA) to certify and approve one of the first commercially available high-throughput DNA sequencers.

Reference material could eliminate biases and blind spots

The new reference material also marks a significant advancement in addressing the needs of the FDA when it comes to evaluating next-gen gene sequencing and genetic testing. Using NIST RM 8398 as a benchmark will also increase the confidence levels of scientists as they report true positive, false positive, true negative, and false negative results.

"DNA sequencers take long strings of a person's DNA and randomly chop them into small pieces that can be individually analyzed to determine their sequence of letters from the genetic code (A, C, G, and T representing the four key components of DNA that code for protein production in living organisms: adenine, cytosine, guanine, and thymine)," NIST explained.

"The sequenced pieces can then be compared to a defined 'reference sequence' to identify differences in the two codes. The differences reveal where mutations have occurred in specific genes," they added. "However, biases and 'blind spots' for certain sequences contribute to uncertainties or errors in the sequence analysis. These biases can lead to hundreds of thousands of disagreements between different sequencing results for the same human genome."

The new reference material is said to be the first complete human genome to have been extensively sequenced and re-sequenced by multiple techniques, and to have the results carefully analyzed and weighted in order to eliminate as much variation and error as possible. It was also the topic of a paper published in the March 2014 edition of the journal .