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Human DNA for Whole-Genome Variant Assessment (Family Trio of Eastern European Ashkenazi Jewish Ancestry) (HG-002, HG-003, HG-004)
In stock
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This Reference Material (RM) is intended for validation, optimization, and process evaluation purposes.
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It consists of three whole human 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), and it can be used to assess the performance of variant calling from genome sequencing.
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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) labelled as HG-002, GM24149 (father) labelled as HG-003, and GM24143 (mother) labelled as HG-004.
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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).
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This material is intended for assessing the performance of human genome sequencing variant calling by obtaining estimates of true positives, false positives, and false negatives.
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Sequencing applications could include whole genome sequencing, whole exome sequencing, and more targeted sequencing such as gene panels.
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This genomic DNA is intended to be analyzed in the same way as any other sample a lab would process and analyze extracted DNA.
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Because the RM is extracted DNA, it is not useful for assessing pre-analytical steps such as DNA extraction, but it does challenge sequencing library preparation, sequencing machines, and the bioinformatics steps of mapping, alignment, and variant calling.
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This RM is not intended to assess subsequent bioinformatics steps such as functional or clinical interpretation.
| SKU | NIST8392 |
|---|---|
| Catalog Number | NIST8392 |
| Chemical Name | Human DNA for Whole-Genome Variant Assessment (Family Trio of Eastern European Ashkenazi Jewish Ancestry) (HG-002, HG-003, HG-004) |
| Shipping Info | All Products are stable to be shipped at room temperature unless otherwise specified. |
| Storage Condition | For a prolonged period. Keep at 2-8°C in a closed container, away from light and moisture. |
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NIST is a registered trademark of National Institute of Standards and Technology
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SRM is a registered trademark of National Institute of Standards and Technology
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All instruments and names of manufacturers mentioned here are the trademarks of their respective companies and are used for reference purposes only. Clinivex Inc. expressly disclaims any affiliation with them.
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Compounds can be strictly provided for Reacher’s and Development purposes. Compounds are not intended for animal/Human testing and /or usage.
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