Genome in a Bottle Consortium-Progress and Planning Workshop
NIST announces the Genome in a Bottle Consortium meeting to be held on Thursday and Friday, January 29 and 30, 2015. 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 release of the pilot candidate NIST Reference Material, short and long read data from the next sets of NIST Reference Materials, structural variants, and potential future Reference Materials.