Standardization to Ensure Accuracy

The Genome in a Bottle Consortium has selected several genomes from cell lines available through the NIGMS Human Genetic Cell Repository to produce and characterize as reference materials. The National Institute of Standards and Technology (NIST) has developed NIST Reference Materials from these genomes, which are DNA extracted from a large homogenized growth of B lymphoblastoid cell lines from the Repository.

Selected Genome in a Bottle Consortium publications:

• Extensive sequencing of seven human genomes to characterize benchmark reference materials. Zook et al., 2016, Scientific Data. (Link)
  
• An open resource for accurately benchmarking small variant and reference calls. Zook et al., 2019, Nature Biotechnology. (Link)
  
• Best practices for benchmarking germline small-variant calls in human genomes. Krusche et al., 2019, Nature Biotechnology. (Link)
  
• A robust benchmark for detection of germline large deletions and insertions. Zook et al., 2020, Nature Biotechnology.  (Link)
  

DNA and cell lines are available for these samples. iPSCs are also available for select lines.

Coriell ID	NIST ID	iPSC ID (Parental Cell Type)	RM Number	Description	Gender	Race	Ethnicity	Relationship to proband	Collection
NA12878	HG001		RM8398	CEPH/UTAH	Female	White	Utah/Mormon	Mother	Apparently Healthy
NA24385	HG002	GM26105 (LCL) GM27730 (PBMC)	RM8391 RM8392  (trio)	PGP	Male	White	Ashkenazim Jewish	Son	Personal Genome Project
NA24149	HG003		RM8392 (trio)	PGP	Male	White	Ashkenazim Jewish	Father	Personal Genome Project
NA24143	HG004	GM26077 (LCL)	RM8392 (trio)	PGP	Female	White	Ashkenazim Jewish	Mother	Personal Genome Project
NA24631	HG005	GM26107 (LCL)	RM8393	PGP	Male	Asian	Chinese	Son	Personal Genome Project
NA24694	N/A		N/A	PGP	Male	Asian	Chinese	Father	Personal Genome Project
NA24695	N/A		N/A	PGP	Female	Asian	Chinese	Mother	Personal Genome Project

See an overview of Genome in a Bottle here and answers to FAQs here.