General descriptionThe Human DNA for Whole-Genome Variant Assessment Reference Material (RM) is intended for validation, optimization, and process evaluation purposes. It consists of a male human whole genome sample of Eastern European Ashkenazi Jewish ancestry from the Personal Genome Project (ID huAA53E0), and it can be used to assess the performance of variant calling from genome sequencing. A unit of RM 8391 consists of a vial containing human genomic DNA extracted from a single large growth of human lymphoblastoid cell line GM24385 (labeled as HG-002) from the Coriell Institute for Medical Research (Camden, NJ). The vial contains approximately 10 μg of genomic DNA in TE buffer (10 mM TRIS, 1 mM EDTA, pH 8.0)
SRM8391_certSRM8391_SDSApplicationHuman DNA for Whole-Genome Variant Assessment Reference Material is intended for assessing the performance of human whole 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 genomic DNA Reference Material (RM) is easy to process and analyze.
- This RM contains isolated DNA rather than live cells.
- 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 8391 is stored at –20 °C but will be shipped with 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
DisclaimerRESEARCH USE ONLY. This product is regulated in France when intended to be used for scientific purposes, including for import and export activities (Article L 1211-1 paragraph 2 of the Public Health Code). The purchaser (i.e. enduser) is required to obtain an import authorization from the France Ministry of Research referred in the Article L1245-5-1 II. of Public Health Code. By ordering this product, you are confirming that you have obtained the proper import authorization.
