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.

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