Measuring stick' for human gene

sequencing unveiled

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.
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 Nature Biotechnology.