80 FR 45194 - Genome in a Bottle Consortium-Progress and Planning Workshop

DEPARTMENT OF COMMERCE
National Institute of Standards and Technology

Federal Register Volume 80, Issue 145 (July 29, 2015)

Page Range		45194-45195
FR Document		2015-18470

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.

Federal Register, Volume 80 Issue 145 (Wednesday, July 29, 2015)

[Federal Register Volume 80, Number 145 (Wednesday, July 29, 2015)]
[Notices]
[Pages 45194-45195]
From the Federal Register Online  [www.thefederalregister.org]
[FR Doc No: 2015-18470]


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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 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

45194 Federal Register / Vol. 80, No. 145 / Wednesday, July 29, 2015 / Notices

proprietary data to be examined and stakeholders, and invite members to four technical working groups with the
discussed at the meeting. participate in work plan following responsibilities:
The Chief Financial Officer and implementation. Topics of discussion at (1) Reference Material (RM) Selection
Assistant Secretary for Administration, this meeting will include progress and and Design: Select appropriate sources
with the concurrence of the Acting, planning of the Analysis Group, which for whole genome RMs and identify or
Assistant General Counsel for is analyzing and integrating the large design synthetic DNA constructs that
Administration, formally determined on variety of sequencing data for four could be spiked-in to samples for
May, 19 2015, pursuant to Section 10(d) candidate NIST Reference Materials, as measurement assurance.
of the Federal Advisory Committee Act, well as potential future Reference (2) Measurements for Reference
as amended by Section 5(c) of the Materials. Material Characterization: Design and
Government in Sunshine Act, Public carry out experiments to characterize
DATES: The Genome in a Bottle the RMs using multiple sequencing
Law 94–409, that the meeting of the
Consortium meeting will be held on methods, other methods, and validation
Judges Panel may be closed to the
Thursday, August 27, 2015 from 9:00 of selected variants using orthogonal
public in accordance with 5 U.S.C.
a.m. to 5:30 p.m. Eastern Time and technologies.
552b(c)(4) because the meeting is likely
Friday, August 28, 2015 from 9:00 a.m. (3) Bioinformatics, Data Integration,
to disclose trade secrets and commercial
to 12:45 p.m. Eastern Time. Attendees and Data Representation: Develop
or financial information obtained from a
must register by 5:00 p.m. Eastern Time methods to analyze and integrate the
person which is privileged or
on Thursday, August 20, 2015. data for each RM, as well as select
confidential and 5 U.S.C. 552b(c)(9)(B)
because for a government agency the ADDRESSES: The meeting will be held in appropriate formats to represent the
meeting is likely to disclose information the Green Auditorium, Building 101, data.
that could significantly frustrate National Institute of Standards and (4) Performance Metrics and Figures
implementation of a proposed agency Technology, 100 Bureau Drive, of Merit: Develop useful performance
action. The meeting, which involves Gaithersburg, MD 20899. Please note metrics and figures of merit that can be
examination of current Award applicant admittance instructions under the obtained through measurement of the
SUPPLEMENTARY INFORMATION section of RMs.
data from U.S. organizations and a
this notice. The products of these technical
discussion of these data as compared to
working groups will be a set of well-
the Award criteria in order to FOR FURTHER INFORMATION CONTACT: For
characterized whole genome and
recommend Award recipients, will be further information contact Justin Zook synthetic DNA RMs along with the
closed to the public. by email at jzook@nist.gov or by phone methods (documentary standards) and
at (301) 975–4133 or Marc Salit by email reference data necessary for use of the
Richard R. Cavanagh,
at salit@nist.gov or by phone at (650) RMs. These products will be designed to
Acting Associate Director for Laboratory
350–2338. To register, go to: https:// help enable translation of whole genome
Programs.
www-s.nist.gov/CRS/conf_disclosure. sequencing to regulated clinical
[FR Doc. 2015–18469 Filed 7–28–15; 8:45 am]
cfm?&conf_id=8473. applications. The pilot NIST whole
BILLING CODE 3510–13–P
SUPPLEMENTARY INFORMATION: Clinical genome RM was released in May 2015
application of ultra high throughput and is available at http://tinyurl.com/
DEPARTMENT OF COMMERCE sequencing (UHTS) for hereditary giabpilot. The consortium is currently
genetic diseases and oncology is rapidly analyzing and integrating data from two
National Institute of Standards and growing. At present, there are no widely trios that are candidate NIST RMs. The
Technology accepted genomic standards or consortium meets in workshops two
quantitative performance metrics for times per year, in January at Stanford
Genome in a Bottle Consortium— confidence in variant calling. These University in Palo Alto, CA, and in
Progress and Planning Workshop standards and quantitative performance August at the National Institute of
AGENCY: National Institute of Standards metrics are needed to achieve the Standards and Technology in
& Technology (NIST), Commerce. confidence in measurement results Gaithersburg, MD. At these workshops,
ACTION: Notice of public workshop.
expected for sound, reproducible including the last meetings at Stanford
research and regulated applications in in January 2015 and at NIST in August
SUMMARY: NIST announces the Genome the clinic. On April 13, 2012, NIST 2014, participants in the consortium
in a Bottle Consortium meeting to be convened the workshop ‘‘Genome in a have discussed progress developing
held on Thursday and Friday, August 27 Bottle’’ to initiate a consortium to well-characterized genomes for NIST
and 28, 2015. The Genome in a Bottle develop the reference materials, Reference Materials and planned future
Consortium is developing the reference reference methods, and reference data experiments and analysis of these
materials, reference methods, and needed to assess confidence in human genomes (see https://federalregister.gov/
reference data needed to assess whole genome variant calls a/2012-18064, https://federalregister.
confidence in human whole genome (www.genomeinabottle.org). On August gov/a/2013-18934, https://federal
variant calls. A principal motivation for 16–17, 2012, NIST hosted the first large register.gov/a/2014-18841 and https://
this consortium is to enable public meeting of the Genome in a federalregister.gov/a/2015-01158 for
performance assessment of sequencing Bottle Consortium, with about 100 past workshops at NIST and Stanford).
and science-based regulatory oversight participants from government, The January 2015 meeting was
of clinical sequencing. The purpose of academic, and industry. This meeting announced in the Federal Register (80
tkelley on DSK3SPTVN1PROD with NOTICES

this meeting is to update participants was announced in the Federal Register FR 3220) on January 22, 2015, and the
about progress of the consortium work, (77 FR 43237) on July 24, 2012. A meeting is summarized at https://docs.
continue to get broad input from principal motivation for this consortium google.com/document/d/19J6YDg1MH1i
individual stakeholders to update or is to enable science-based regulatory D-8Q8mmV9L7wHOfuyUC3aogctZ2
refine the consortium work plan, oversight of clinical sequencing. Nh87U/edit?usp=sharing.
continue to broadly solicit consortium At the August 2012 meeting, the There is no cost for participating in
membership from interested consortium established work plans for the consortium. No proprietary

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Federal Register / Vol. 80, No. 145 / Wednesday, July 29, 2015 / Notices 45195

information will be shared as part of the Conservation Division, Office of The incidental taking of small
consortium, and all research results will Protected Resources, National Marine numbers of marine mammals may be
be in the public domain. Fisheries Service. Physical comments allowed only if NMFS (through
All visitors to the NIST site are should be sent to 1315 East-West authority delegated by the Secretary)
required to pre-register to be admitted. Highway, Silver Spring, MD 20910 and finds that the total taking by the
Anyone wishing to attend this meeting electronic comments should be sent to specified activity during the specified
must pre-register at https://www-s.nist. ITP.Laws@noaa.gov. time period will (i) have a negligible
gov/CRS/conf_disclosure.cfm?&conf_ Instructions: NMFS is not responsible impact on the species or stock(s) and (ii)
id=8473 by 5:00 p.m. Eastern Time on for comments sent by any other method, not have an unmitigable adverse impact
Thursday, August 20, 2015, in order to to any other address or individual, or on the availability of the species or
attend. Also, please note that under the received after the end of the comment stock(s) for subsistence uses (where
REAL ID Act of 2005 (Pub. L. 109–13), period. Comments received relevant). Further, the permissible
federal agencies, including NIST, can electronically, including all methods of taking and requirements
only accept a state-issued driver’s attachments, must not exceed a 25- pertaining to the mitigation, monitoring
license or identification card for access megabyte file size. Attachments to and reporting of such taking must be set
to federal facilities if issued by states electronic comments will be accepted in forth, either in specific regulations or in
that are REAL ID compliant or have an Microsoft Word or Excel or Adobe PDF an authorization.
extension. NIST also currently accepts file formats only. All comments The allowance of such incidental
other forms of federal-issued received are a part of the public record taking under section 101(a)(5)(A), by
identification in lieu of a state-issued and will generally be posted to the harassment (which is defined to include
driver’s license. For detailed Internet at www.nmfs.noaa.gov/pr/ behavioral harassment and injury),
information please contact Justin Zook permits/incidental/oilgas.htm without serious injury, death, or a combination
at jzook@nist.gov or 301–975–4133, or change. All personal identifying thereof, requires that regulations be
visit: http://www.nist.gov/public_ information (e.g., name, address) promulgated for the specific activity.
affairs/visitor/. voluntarily submitted by the commenter Subsequently, a Letter of Authorization
may be publicly accessible. Do not may be issued pursuant to the
Richard R. Cavanagh, prescriptions established in such
Acting Associate Director for Laboratory
submit confidential business
information or otherwise sensitive or regulations, providing that the level of
Programs. taking will be consistent with the
[FR Doc. 2015–18470 Filed 7–28–15; 8:45 am]
protected information.
findings made for the total taking
FOR FURTHER INFORMATION CONTACT: Ben
BILLING CODE 3510–13–P allowable under the specific regulations.
Laws, Office of Protected Resources, Under section 101(a)(5)(D), NMFS may
NMFS, (301) 427–8401. authorize such incidental taking by
DEPARTMENT OF COMMERCE SUPPLEMENTARY INFORMATION: harassment only, for periods of not more
Availability than one year, pursuant to requirements
National Oceanic and Atmospheric
and conditions contained within an
Administration Electronic copies of the applications IHA. The proposed incidental take
RIN 0648–XE070 may be obtained by visiting the Internet authorization and establishment of
at: www.nmfs.noaa.gov/pr/permits/ prescriptions through either specific
Taking and Importing Marine incidental/oilgas.htm. regulations or an IHA requires notice
Mammals; Taking Marine Mammals In 2014, the Bureau of Ocean Energy and opportunity for public comment.
Incidental to Geophysical Surveys in Management produced a Programmatic NMFS has defined ‘‘negligible
the Atlantic Ocean Environmental Impact Statement (PEIS) impact’’ in 50 CFR 216.103 as ‘‘. . . an
to evaluate potential significant impact resulting from the specified
AGENCY: National Marine Fisheries
environmental effects of geological and activity that cannot be reasonably
Service (NMFS), National Oceanic and
geophysical (G&G) activities on the Mid- expected to, and is not reasonably likely
Atmospheric Administration (NOAA),
and South Atlantic Outer Continental to, adversely affect the species or stock
Commerce.
Shelf (OCS), pursuant to requirements through effects on annual rates of
ACTION: Notice; receipt of applications of the National Environmental Policy recruitment or survival.’’ Except with
for incidental harassment authorization Act. These activities include respect to certain activities not pertinent
(IHA); request for comments and geophysical surveys in support of oil here, section 3(18) of the MMPA defines
information. and gas exploration and development, ‘‘harassment’’ as: ‘‘. . . any act of
SUMMARY: NMFS has received multiple as are proposed in the MMPA pursuit, torment, or annoyance which (i)
requests for authorization under the applications before NMFS. The PEIS is has the potential to injure a marine
Marine Mammal Protection Act available at: www.boem.gov/Atlantic-G- mammal or marine mammal stock in the
(MMPA) to take marine mammals G-PEIS/. wild [Level A harassment]; or (ii) has
incidental to conducting geophysical the potential to disturb a marine
Background
survey activity in the Atlantic Ocean. mammal or marine mammal stock in the
NMFS is announcing receipt of these Sections 101(a)(5)(A) and (D) of the wild by causing disruption of behavioral
requests and invites information, MMPA (16 U.S.C. 1361 et seq.) direct patterns, including, but not limited to,
suggestions, and comments on the the Secretary of Commerce to allow, migration, breathing, nursing, breeding,
applications. upon request by U.S. citizens who feeding, or sheltering [Level B
tkelley on DSK3SPTVN1PROD with NOTICES

engage in a specified activity (other than harassment].’’
DATES: Comments and information must commercial fishing) within a specified The use of sound sources such as
be received no later than August 28, area, the incidental, but not intentional, those described in the applications (e.g.,
2015. taking of small numbers of marine airgun arrays) may result in the
ADDRESSES: Comments on the mammals, providing that certain disturbance of marine mammals through
applications should be addressed to findings are made and the necessary disruption of behavioral patterns or may
Jolie Harrison, Chief, Permits and prescriptions are established. cause auditory injury of marine

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Document Created: 2015-12-15 13:05:31
Document Modified: 2015-12-15 13:05:31

Category		Regulatory Information
Collection		Federal Register
sudoc Class		AE 2.7: GS 4.107: AE 2.106:
Publisher		Office of the Federal Register, National Archives and Records Administration
Section		Notices
Action		Notice of public workshop.
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.
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.
FR Citation		80 FR 45194

80 FR 45194 - Genome in a Bottle Consortium-Progress and Planning Workshop

DEPARTMENT OF COMMERCENational Institute of Standards and Technology

Federal Register Volume 80, Issue 145 (July 29, 2015)

DEPARTMENT OF COMMERCE
National Institute of Standards and Technology