Reference Materials and Data

The Genome in a Bottle Consortium has selected several genomes to produce and characterize as reference materials.  The National Institute of Standards and Technology (NIST) is developing NIST Reference Materials from these genomes, which are DNA extracted from a large homogenized growth of B lymphoblastoid cell lines from the Coriell Institute for Medical Research.  Note that there may be small differences between the NIST DNA and the Coriell DNA since they come from different growths of cells, though we do not expect these differences to be large for most applications.

The NIST Reference Materials available and planned are listed below, along with links to their data.

A description of data generated by GIAB for all the genomes below is published here, and characterization of small variants is published here. Ongoing work to characterize more difficult variants and regions is announced in the GIAB Analysis Team google group.

GitHub Resources for GIAB

More information related to Genome in a Bottle can be found on the GIAB GitHub.

GIAB Related Publications

Google Scholar List


Genome Data and Resources

Pilot Genome (NA12878): 


Ashkenazim Father-Mother-Son trio from Personal Genome Project:


Asian (Han Chinese) Father-Mother-Son trio from Personal Genome Project:

All of this data is made public for analysis without restrictions, though when writing a scientific paper, the newest integration paper  and/or should be cited as appropriate.

GIAB Presentations