[Federal Register Volume 79, Number 154 (Monday, August 11, 2014)]
[Notices]
[Pages 46774-46775]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2014-18841]


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DEPARTMENT OF COMMERCE

National Institute of Standards and Technology


Genome in a Bottle Consortium--Progress and Planning Workshop

AGENCY: National Institute of Standards & Technology (NIST), Commerce.

ACTION: Notice of public workshop.

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SUMMARY: 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.

DATES: The Genome in a Bottle Consortium meeting will be held on 
Thursday, August 14, 2014 from 9:00 a.m. to 5:30 p.m. Eastern Time and 
Friday, August 15, 2014 from 9:00 a.m. to 12:45 p.m. Eastern Time. 
Attendees must register by 5:00 p.m. Eastern Time on Monday, August 11, 
2014.

ADDRESSES: The meeting will be held at the National Institute of 
Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899 in 
Room C103-C106, Building 215. Please note admittance instructions under 
the SUPPLEMENTARY INFORMATION section of this notice.

FOR FURTHER INFORMATION CONTACT: For further information contact Justin 
Zook by email at [email protected] or by phone at (301) 975-4133 or Marc 
Salit by email at [email protected] or by phone at (650) 350-2338. To 
register, go to: https://www-s.nist.gov/CRS/conf_disclosure.cfm?conf_id=7372

SUPPLEMENTARY INFORMATION: Clinical application of ultra high 
throughput sequencing (UHTS) for hereditary genetic diseases and 
oncology is rapidly growing. At present, there are no widely accepted 
genomic standards or quantitative performance metrics for confidence in 
variant calling. These standards and quantitative performance metrics 
are needed to achieve the confidence in measurement results expected 
for sound, reproducible research and regulated applications in the 
clinic. On April 13, 2012, NIST convened the workshop ``Genome in a 
Bottle'' to initiate a consortium to develop the reference materials, 
reference methods, and reference data needed to assess confidence in 
human whole genome variant calls (www.genomeinabottle.org). On August 
16-17, 2012, NIST hosted the first large public meeting of the Genome 
in a Bottle Consortium, with about 100 participants from government, 
academic, and industry. This meeting was announced in the Federal 
Register (77 FR 43237) on July 24, 2012. A principal motivation for 
this consortium is to enable science-based regulatory oversight of 
clinical sequencing.
    At the August 2012 meeting, the consortium established work plans 
for four technical working groups with the following responsibilities:
    (1) Reference Material (RM) Selection and Design: Select 
appropriate sources for whole genome RMs and identify or design 
synthetic DNA constructs that could be spiked-in to samples for 
measurement assurance.
    (2) Measurements for Reference Material Characterization: Design 
and carry out experiments to characterize the RMs using multiple 
sequencing methods, other methods, and validation of selected variants 
using orthogonal technologies.
    (3) Bioinformatics, Data Integration, and Data Representation: 
Develop methods to analyze and integrate the data for each RM, as well 
as select appropriate formats to represent the data.
    (4) Performance Metrics and Figures of Merit: Develop useful 
performance metrics and figures of merit that can be obtained through 
measurement of the RMs.
    The products of these technical working groups will be a set of 
well-characterized whole genome and synthetic DNA RMs along with the 
methods (documentary standards) and reference data necessary for use of 
the RMs. These products will be designed to help enable translation of 
whole genome sequencing to regulated clinical applications. The 
consortium meets in workshops two times per year, in January at 
Stanford University in Palo Alto, CA, and in August at the National 
Institute of Standards and Technology in Gaithersburg, MD. At these 
workshops, including the last meeting at NIST in August 2013, 
participants in the consortium have discussed progress developing well-
characterized genomes for NIST Reference Materials and planned future 
experiments and analysis of these genomes (see https://federalregister.gov/a/2012-18064 and https://federalregister.gov/a/2013-18934 for past workshops at NIST). The August 2013 meeting, which 
included meetings of each of the four working groups, was announced in 
the Federal Register (78 FR 47674) on August 6, 2013, and the meeting 
is summarized at http://genomeinabottle.org/blog-entry/giab-workshop-summary-august-15-16-2013.

[[Page 46775]]

    There is no cost for participating in the consortium. No 
proprietary information will be shared as part of the consortium, and 
all research results will be in the public domain.
    All visitors to the NIST site are required to pre-register to be 
admitted and present appropriate government-issued photo ID to gain 
entry to NIST. Anyone wishing to attend this meeting must pre-register 
at https://www-s.nist.gov/CRS/conf_disclosure.cfm?conf_id=7372 by 
5:00 p.m. Eastern Time on Monday, August 11, 2014, in order to attend.

    Dated: August 5, 2014.
Willie E. May,
Associate Director of Laboratory Programs.
[FR Doc. 2014-18841 Filed 8-8-14; 8:45 am]
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