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'How well did you sequence that genome?' NIST, consortium partners have answer
Date:2/25/2014

In December 2013, the U.S. Food and Drug Administration approved the first high-throughput DNA sequencer (also known commonly as a "gene sequencer"), an instrument that allows laboratories to quickly and efficiently sequence a person's DNA for genetic testing, medical diagnoses and perhaps one day, customized drug therapies. Helping get the new device approved was another first: the initial use of a reference set of standard genotypes, or "coded blueprints" of a person's genetic traits. The standard genotypes were created by the National Institute of Standards and Technology (NIST) and collaborators within the NIST-hosted Genome in a Bottle consortium.

"Two years ago, NIST hosted Genome in a Bottlea group that includes stakeholders from industry, academia and the federal governmentto develop reference materials that could measure the performance of equipment, reagents and mathematical algorithms used for clinical human genome sequencing," says NIST biomedical engineer Justin Zook. "Our goal is to provide well-characterized, whole genome standards that will tell a laboratory how well its sequencing process is working, sort of a 'meter stick of the genome.'"

Modern DNA sequencers take a genetic sample in the form of long strings of DNA and randomly chop the DNA into small pieces that can be individually analyzed to determine their sequence of letters from the genetic alphabet. Then, bioinformaticians apply complex mathematical algorithms to identify from which part of the genome the pieces originated. These pieces can then be compared to a defined "reference sequence" to identify where mutations have occurred in specific genes.

There are several different DNA sequencing technologies and computer algorithms to do this very complex analysis, and it's known that for any given sample, they will produce similar, but not identical results. Built-in biases as well as what are essentially "blind spots" for certain possible sequences contrib
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Contact: Michael E. Newman
michael.newman@nist.gov
301-975-3025
National Institute of Standards and Technology (NIST)
Source:Eurekalert  

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