NIGMS Repository Address AMP Reference Materials Forum


Co-PI of the NIGMS Repository, Matthew W. Mitchell, PhD, gave a presentation as part of the AMP Reference Materials Forum, which took place virtually earlier this month. This meeting focused on the research need and resource availability of genetic testing reference materials, such as DNA samples. Some of the more common research applications requiring the use of these well characterized biomaterials include: assay development, test validation, quality control, and proficiency testing.

In his talk entitled, Centralized Biobanking and Reference Materials: Raising the Standard, Dr. Mitchell discussed the need to minimize inter-lab variability of next-generation sequencing results and interpretations in order to improve the scientific rigor and technical reproducibility critical for high quality genetic and genomic research. Well-characterized DNA reference materials serve as a baseline upon which the quality and reliability of experimental or clinical sequencing can be attuned. Biobanks, in turn, are able to provide these samples from a centralized resource via renewable materials, to be made widely available to researchers. More so, a dedicated institutional resource such as a biobank is able to develop additional related projects to enhance available research materials and expand collections to include well-characterized samples of other biospecimen types (e.g. High Molecular Weight DNA)

As discussed in his presentation, there are three main goals in developing these research materials so as to most beneficially enhance the resources available to the scientific community. First is to develop materials from specimens donated by diverse populations representing a wide range of human variation across the globe. Second is to enrich the disease diversity of materials, with the inclusion of both multiple disease diagnoses and multiple samples from individuals with the same primary disease, differing in the molecular mechanism of onset. Third is to widen the range of sample types for which well-characterized references are established, so as to enable appropriate controls based on biospecimen type as new technologies are developed. Together, these aims will enhance the quality of available biological research materials for use as reference standards that serve as a foundation for future studies.

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