PIXABAY, PUBLICDOMAINPICTURESTo create uniformity in the genomic testing industry, the US National Institute of Standards and Technology (NIST) has created a reference human genome that can be used as a control to ensure that sequencing is done reliably.
“If you send a sample of blood or a tumor biopsy to different genetic testing laboratories, you can get different results,” Marc Salit, the leader of a genome measurement group at the institute, told The New York Times. “While largely in agreement, they may have significant differences. Now, for the first time, we have a standard to check the reliability and quality of gene sequencing.”
The reference sample, designed to be used in next-generation sequencing, costs $450. While available to anyone who would like to purchase it, companies that perform such sequencing are not required to consult the reference. “This gives someone a chance to tell how well their sequencers...
The reference material originates from a Utah woman of European ancestry. According to GenomeWeb, NIST is developing four other reference genomes.