产品名称
Human DNA for Whole-Genome Variant Assessment (Family Trio of Eastern European Ashkenazi Jewish Ancestry) (HG-002, HG-003, HG-004), NIST®SRM®
form
liquid
packaging
pkg of 10 μg (3 vials)
manufacturer/tradename
NIST®
application(s)
genomic analysis
storage temp.
−20°C
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 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.
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_cert
SRM 8392_SDS
SRM 8392_cert
SRM 8392_SDS
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
SRM is a registered trademark of National Institute of Standards and Technology
存储类别
12 - Non Combustible Liquids
wgk
WGK 1
flash_point_f
Not applicable
flash_point_c
Not applicable
法规信息
新产品
此项目有
Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials
Cleveland MH, et al.
The Journal of Molecular Diagnostics : JMD, 20, 583-590 (2018)
Bennett O V Shum et al.
The Journal of molecular diagnostics : JMD, 19(4), 602-612 (2017-05-16)
The sensitivity and specificity of next-generation sequencing laboratory developed tests (LDTs) are typically determined by an analyte-specific approach. Analyte-specific validations use disease-specific controls to assess an LDT's ability to detect known pathogenic variants. Alternatively, a methods-based approach can be used
我们的科学家团队拥有各种研究领域经验，包括生命科学、材料科学、化学合成、色谱、分析及许多其他领域.
联系客户支持