General descriptionHuman DNA for Whole-Genome Variant Assessment Reference Material (RM) is intended for validation, optimization, and process evaluation purposes. It consists of a male whole human genome sample of East Asian (Chinese) ancestry from the Personal Genome Project (ID hu91BD69). A unit of RM 8393 consists of a vial containing human genomic DNA extracted from a single large growth of human lymphoblastoid cell line GM24631 (labeled as HG-005) from the Coriell Institute for Medical Research (Camden, NJ).
SRM 8393_SDSSRM 8393_CertApplicationHuman DNA for Whole-Genome Variant Assessment Reference Material (RM) is intended for assessing the performance of human genome sequencing variant calling by obtaining estimates of true positives, false positives, and false negatives. Sequencing applications could include:
- whole genome sequencing
- whole exome sequencing
- targeted sequencing such as gene panels
Features and Benefits- This reference material contains isolated DNA rather than live cells and is intended for research use.
- An extensive report of the investigation is available through NIST.
- Information values are provided for single nucleotide variations (SNVs), small insertions and deletions (indels), and homozygous reference genotypes.
Other Notes- RM 8393 is stored at –20 °C at NIST but will be shipped in freezer packs and may not arrive frozen.
- Details on expiration, storage, safety, usage, and source are provided in the NIST certificate.
- Information on biomaterials, disposal, and transport is available in the SDS.
Legal InformationNIST is a registered trademark of National Institute of Standards and Technology
SRM is a registered trademark of National Institute of Standards and Technology
