[Federal Register Volume 80, Number 145 (Wednesday, July 29, 2015)]
[Notices]
[Pages 45194-45195]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2015-18470]


-----------------------------------------------------------------------

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.

-----------------------------------------------------------------------

SUMMARY: NIST announces the Genome in a Bottle Consortium meeting to be 
held on Thursday and Friday, August 27 and 28, 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 progress and planning of the Analysis Group, 
which is analyzing and integrating the large variety of sequencing data 
for four candidate NIST Reference Materials, as well as potential 
future Reference Materials.

DATES: The Genome in a Bottle Consortium meeting will be held on 
Thursday, August 27, 2015 from 9:00 a.m. to 5:30 p.m. Eastern Time and 
Friday, August 28, 2015 from 9:00 a.m. to 12:45 p.m. Eastern Time. 
Attendees must register by 5:00 p.m. Eastern Time on Thursday, August 
20, 2015.

ADDRESSES: The meeting will be held in the Green Auditorium, Building 
101, National Institute of Standards and Technology, 100 Bureau Drive, 
Gaithersburg, MD 20899. 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=8473.

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 pilot 
NIST whole genome RM was released in May 2015 and is available at 
http://tinyurl.com/giabpilot. The consortium is currently analyzing and 
integrating data from two trios that are candidate NIST RMs. 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 2015 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, https://federalregister.gov/a/2014-18841 and https://federalregister.gov/a/2015-01158 for past workshops 
at NIST and Stanford). The January 2015 meeting was announced in the 
Federal Register (80 FR 3220) on January 22, 2015, and the meeting is 
summarized at https://docs.google.com/document/d/19J6YDg1MH1iD-8Q8mmV9L7wHOfuyUC3aogctZ2Nh87U/edit?usp=sharing.
    There is no cost for participating in the consortium. No 
proprietary

[[Page 45195]]

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. Anyone wishing to attend this meeting must pre-register at 
https://www-s.nist.gov/CRS/conf_disclosure.cfm?&conf_id=8473 by 5:00 
p.m. Eastern Time on Thursday, August 20, 2015, in order to attend. 
Also, please note that under the REAL ID Act of 2005 (Pub. L. 109-13), 
federal agencies, including NIST, can only accept a state-issued 
driver's license or identification card for access to federal 
facilities if issued by states that are REAL ID compliant or have an 
extension. NIST also currently accepts other forms of federal-issued 
identification in lieu of a state-issued driver's license. For detailed 
information please contact Justin Zook at [email protected] or 301-975-
4133, or visit: http://www.nist.gov/public_affairs/visitor/.

Richard R. Cavanagh,
Acting Associate Director for Laboratory Programs.
[FR Doc. 2015-18470 Filed 7-28-15; 8:45 am]
BILLING CODE 3510-13-P