Human DNA for Whole-Genome Variant Assessment (Son of Eastern European Ashkenazi Jewish Ancestry) (HG-002)

This Reference Material (RM) is intended for validation, optimization, and process evaluation purposes.

It consists of a male whole human 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, and the DNA is in TE buffer (10 mM TRIS, 1 mM EDTA, pH 8.0). 

This material is intended for assessing 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, and more targeted sequencing, such as gene panels.

This genomic DNA is intended to be analyzed in the same way as any other sample a lab would process and analyze extracted DNA.

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.

This RM is not intended to assess subsequent bioinformatics steps such as functional or clinical interpretation.

Manufacturer: NIST ( National Institute of Standards and Technology)