In an effort to refine their Reference Material initiative, the National Institute of Standards and Technology (NIST) will now offer samples from two family trios hosted in the Personal Genome Project Collection at the Coriell Institute for Medical Research. These samples have been widely studied in order to characterize the more difficult regions of the genome, as well as more difficult types of variants, like structural variants.
The development reinforces a high-confidence resource of DNA samples available to the global research community for human genome sequencing by adding samples from a pair of family trios (Ashkenazim trio and son from Han Chinese trio), which were sourced from the Personal Genome Project. The samples have been released as NIST Reference Materials 8391 (male of Eastern European Ashkenazic Jewish ancestry), 8392 (male son, father and mother who are a family of Eastern European Ashkenazic Jewish ancestry with the son's genome being the same released as NIST RM 8391) and 8393 (male of East Asian (Chinese) ancestry).
Introduced in early 2015 by NIST, the Genome in a Bottle Consortium aimed to develop reference standards, methods and data that would enable translation of whole human genome sequencing to clinical practice. These reference materials serve as a genetic point of reference for institutions investigating complex disease treatment paths and the clinical adoption of genomic data.
The project teams NIST with Coriell Institute, which initially provided DNA from well-characterized cell lines from the Human Genetic Cell Repository, sponsored by the National Institute of General Medical Sciences (NIGMS), a division of the National Institutes of Health (NIH).
Coriell Institute leverages its expert biorepository capabilities to grow cell lines, harvest the cells for high-yield DNA isolation, perform rigorous quality control measures, and oversee international distribution of the materials.
"Progress in the pursuit of improved health management outcomes does not need to be hindered in the formative stages," says Dr. Nahid Turan, principal investigator of the NIGMS Human Genetic Cell Repository, which represents more than 1,000 unique human diseases, housed at Coriell Institute. "Creating and validating a collection like this means researchers can achieve the accuracy, reliability and reproducibility required to move important discoveries forward."
To learn more about the samples, and to access the new trios and all accompanying data, click here.