NIST is developing a portfolio of reference materials and measurement techniques for genomics applications. We have subject matter experts working on the most pressing genomic measurement issues including genome editing, cancer genomics, and metagenomics. For example, NIST led the development and release of a set of four standardized genome reference materials that are the most well-characterized normal human genomes available providing laboratories with the capability to accurately “map” DNA for genetic testing, medical diagnoses and future customized drug therapies.
NIST cancer biomarker reference materials help researchers and clinicians establish analytical validation of their measurement processes. The reference materials are developed in consultation with cancer experts from industry, academic, and government laboratories.
The NIST-led Genome Editing Consortium aims to address the measurements and standards needed to increase confidence and lower the risk of utilizing genome editing technologies in research and commercial products.
Current Activities and Products:
- Genome Editing Consortium – measurement solutions and standards to support innovation and products in the genome editing technology space.
- Cancer Biomarker Reference Materials
- SRM 2373 - Genomic DNA Standards for HER2 Measurements
- RM 8366 - Copy Number Standards for EGFR and MET
- Circulating Cell Free DNA Standards –reference material that contains normal and allelic DNA to measure single nucleotide variations, fusions, and epigenetic markers.
- Total RNA Cancer Reference Samples – Set of total RNA material that can be used to benchmark miRNA datasets for biomarker discovery.
- Microbial Genomic Reference Material
- RM 8375 - vials of genomic DNA from four different bacterial strains, ranging in genome size and GC content to best challenge DNA sequencing technologies
- Genome in a Bottle – set of four of the most widely characterized human whole variant and normal genome sequences used in sequencing and bioinformatic analysis pipelines.
- RM 8398 - Human DNA for whole genome variant assessment from a daughter of Utah/European Ancestry.
- RM 8391 – Normal DNA from son of Ashkenazi descent.
- RM 8392 – Normal DNA from trio of mother, father and son from Ashkenazi descent.
- RM 8393 – Normal DNA from trio of mother, father and son from Han Chinese (Asian) descent.
- ERCC Standard Reference Material
- SRM 2374 – RNA spike-in controls, composed of a set of 96 DNA templates used to make ERCC RNA control molecules.