National Institute of Standards and Technology August 11, 2014 – Federal Register Recent Federal Regulation Documents

NIST announces the Genome in a Bottle Consortium meeting to be held on Thursday and Friday, August 14 and 15, 2014. The Genome in a Bottle Consortium is developing the reference materials, reference methods, and reference data needed to assess confidence in human whole genome variant calls. A principal motivation for this consortium is to enable performance assessment of sequencing and science-based regulatory oversight of clinical sequencing. The purpose of this meeting is to update participants about progress of the consortium work, continue to get broad input from individual stakeholders to update or refine the consortium work plan, continue to broadly solicit consortium membership from interested stakeholders, and invite members to participate in work plan implementation. Topics of discussion at this meeting will include examples of laboratories using the pilot candidate NIST Reference Material, progress on the next set of NIST Reference Materials, structural variants, and potential Reference Materials for cancer genomics.