[Federal Register Volume 80, Number 14 (Thursday, January 22, 2015)]
[Notices]
[Pages 3220-3221]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2015-01158]


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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, 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.

DATES: The Genome in a Bottle Consortium meeting will be held on 
Thursday, January 29, 2015 from 9:00 a.m. to 5:30 p.m. Pacific Time and 
Friday, January 30, 2015 from 9:00 a.m. to 12:45 p.m. Pacific Time. 
Attendees must register by 5:00 p.m. Pacific Time on Thursday, January 
22, 2015.

ADDRESSES: The meeting will be held in the Fisher Conference Center 
inside the Arrillaga Alumni Center at Stanford University, 326 Galvez 
Street, Stanford, CA 94305-6105. 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: http://app.certain.com/profile/form/index.cfm?PKformID=0x19409085b04.

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.

[[Page 3221]]

    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 meetings at Stanford in January 2014 and 
at NIST in August 2014, 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, https://federalregister.gov/a/2013-18934, and https://federalregister.gov/a/2014-18841 for past workshops at NIST). The August 2014 meeting, which 
included meetings of each of the four working groups, was announced in 
the Federal Register (79 FR 46774) on August 11, 2014, and the meeting 
is summarized at https://sites.stanford.edu/abms/content/workshop-summary-and-slides-august-2014.
    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 attendees are required to pre-register. Anyone wishing to 
attend this meeting must pre-register at http://app.certain.com/profile/form/index.cfm?PKformID=0x19409085b04 by 5:00 p.m. Pacific Time 
on Thursday, January 22, 2015, in order to attend.

    Dated: January 14, 2015.
Richard Cavanagh,
Acting Associate Director of Laboratory Programs.
[FR Doc. 2015-01158 Filed 1-21-15; 8:45 am]
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