Description of Collaborative Activity: |
The "Genome in a Bottle Consortium" was organized to develop the reference materials, reference data, and reference methods needed to assess performance of human genome sequencing. It is a public-private-academic consortium hosted by NIST to develop the technical infrastructure (reference standards, reference methods, and reference data) to enable translation of whole human genome sequencing to clinical practice and innovations in technologies. The priority of GIAB is authoritative characterization of human genomes for use in benchmarking, including analytical validation and technology development, optimization, and demonstration. |