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Key Documents

NIST8392

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

NIST®SRM®

同義詞:

Human DNA for Variant Calling (Ashkenazi Jewish) (HG-002, HG-003, HG-004)

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About This Item

分類程式碼代碼:
41116107
NACRES:
NA.24

形狀

liquid

包裝

pkg of 10 μg (3 vials)

製造商/商標名

NIST®

應用

genomic analysis

儲存溫度

−20°C

一般說明

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

應用

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

特點和優勢

  • 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.

其他說明

  • 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.

法律資訊

NIST is a registered trademark of National Institute of Standards and Technology
SRM is a registered trademark of National Institute of Standards and Technology

儲存類別代碼

12 - Non Combustible Liquids

水污染物質分類(WGK)

WGK 1

閃點(°F)

Not applicable

閃點(°C)

Not applicable


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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)

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