National Institute of Standards and Technology January 5, 2016 – Federal Register Recent Federal Regulation Documents

The National Institute of Standards and Technology (NIST) announces the Genome in a Bottle ConsortiumProgress and Planning Workshop to be held on Thursday, January 28, 2016, and Friday, January 29, 2016. 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 workshop 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 workshop will include progress and planning of the Analysis Group, which is analyzing and integrating the large variety of sequencing data for four candidate NIST Reference Materials (RMs), with a particular focus on challenging types of variants and challenging regions of the genome. Other potential NIST RMs that might be developed by the consortium will also be discussed.