Human DNA for Whole-Genome Variant Assessment (Family Trio of Eastern European Ashkenazi Jewish Ancestry) (HG-002, HG-003, HG-004)

Description

• General description: Human DNA for Whole-Genome Variant Assessment Reference Material (RM) is intended for validation, optimization, and process evaluation purposes. It consists of three human whole genome samples from a son-father-mother family trio of Eastern European Ashkenazi Jewish ancestry from the Personal Genome Project (IDs huAA53E0, hu6E4515, and hu8E87A9). A unit of RM 8392 consists of three vials containing human genomic DNA from a specific family member; extracted from three large growths of human lymphoblastoid cell lines from the Coriell Institute for Medical Research (Camden, NJ): GM24385 (son) labeled as HG-002, GM24149 (father) labeled as HG-003, and GM24143 (mother) labeled as HG-004. Each vial contains approximately 10 µg of genomic DNA, and the DNA is in TE buffer (10 mM TRIS, 1 mM EDTA, pH 8.0)SRM 8392_certSRM 8392_SDS
• Application: Human DNA for Whole-Genome Variant Assessment Reference Material 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 sequencingwhole exome sequencingtargeted 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 NISTInformation values are provided for single nucleotide variations (SNVs), small insertions and deletions (indels), and homozygous reference genotypes.
• Other Notes: RM 8392 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. he size distributions are measured using PFGE, and biases of this method were not characterized.
• Legal Information: NIST is a registered trademark of National Institute of Standards and Technology