[Federal Register Volume 77, Number 142 (Tuesday, July 24, 2012)]
[Notices]
[Pages 43237-43238]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2012-18064]


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DEPARTMENT OF COMMERCE

National Institute of Standards and Technology


Genome in a Bottle Consortium--Work Plan Review 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 16 and 17, 2012. The Genome in a 
Bottle Consortium is planning to develop 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

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of clinical sequencing. The purpose of this meeting is to get broad 
input from stakeholders about the draft consortium work plan, broadly 
solicit consortium membership from interested stakeholders, and invite 
members to participate in work plan implementation.

DATES: The Genome in a Bottle Consortium meeting will be held on 
Thursday and Friday, August 16 and 17, 2012. Attendees must register by 
5 p.m. Eastern time on Thursday, August 9, 2012.

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 (301) 975-3646. To 
register, go to: https://www-s.nist.gov/CRS/.

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. A principal motivation for this 
consortium is to enable science-based regulatory oversight of clinical 
sequencing.
    At present, we expect the consortium to have four working groups 
with the following responsibilities:
    (1) Reference Material (RM) Selection and Design: Select 
appropriate cell lines for whole genome RMs and design synthetic DNA 
constructs that could be spiked-in to samples.
    (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 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.
    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 have appropriate government-issued photo ID to gain entry 
to NIST. Anyone wishing to attend this meeting must register at https://www-s.nist.gov/CRS/by 5 p.m. Eastern time on Thursday, August 9, 2012, 
in order to attend.

    Dated: July 18, 2012.
Willie E. May,
Associate Director for Laboratory Programs.
[FR Doc. 2012-18064 Filed 7-23-12; 8:45 am]
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