81 FR 57564 - Genome in a Bottle Consortium-Progress and Planning Workshop
DEPARTMENT OF COMMERCE
National Institute of Standards and Technology Federal Register Volume 81, Issue 163 (August 23, 2016)
National Institute of Standards and Technology
Federal Register Volume 81, Issue 163 (August 23, 2016)
| Page Range | 57564-57565 | |
| FR Document | 2016-20120 |
[Federal Register Volume 81, Number 163 (Tuesday, August 23, 2016)] [Notices] [Pages 57564-57565] From the Federal Register Online [www.thefederalregister.org] [FR Doc No: 2016-20120] ----------------------------------------------------------------------- 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 (GIAB) Consortium meeting to be held on Thursday and Friday, September 15 and 16, 2016. 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. September 15 will be a new sample thinkshop to discuss new GIAB genomes in parallel with a data jamboree to develop high-confidence calls for difficult variants and difficult regions. September 16 will be the plenary session to present GIAB progress updates and emerging technical work. DATES: The Genome in a Bottle Consortium meeting will be held on Thursday, September 15, 2016 from 9:00 a.m. to 5:30 p.m. Eastern Time and Friday, September 16, 2016 from 8:30 a.m. to 2:00 p.m. Eastern Time. Attendees must register by 5:00 p.m. Eastern Time on Thursday, September 8, 2016. ADDRESSES: The meeting will be held in Lecture Room A, Lecture Room B, and 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://appam.certain.com/profile/form/index.cfm?PKformID=0x311041593. SUPPLEMENTARY INFORMATION: Clinical application of ultra-high throughput sequencing 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 institutions, 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 8398 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 2016 and at NIST in August 2015, participants in the consortium have discussed progress in 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, https://federalregister.gov/a/2015-01158, and https://www.federalregister.gov/articles/2016/01/05/2015-33140/genome-in-a-bottle-consortium-progress-and-planning-workshop for announcements of past workshops at NIST and Stanford). The January 2016 meeting was announced in the Federal Register (81 FR 226) on [[Page 57565]] January 5, 2016, and the meeting is summarized at https://docs.google.com/document/d/1VdP96SYCPcZZvXprowMq8rp6FURCxSh1uo4Dd1tTpJY/edit?usp=drive_web. 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 https://appam.certain.com/profile/form/index.cfm?PKformID=0x311041593 by 5:00 p.m. Eastern Time on Thursday, September 8, 2016, in order to attend. Kent Rochford, Associate Director for Laboratory Programs. [FR Doc. 2016-20120 Filed 8-22-16; 8:45 am] BILLING CODE 3510-13-P
![57564 Federal Register / Vol. 81, No. 163 / Tuesday, August 23, 2016 / Notices
NIST, 100 Bureau Drive, MS 1060, from interested stakeholders, and invite At the August 2012 meeting, the
Gaithersburg, Maryland 20899, via fax at members to participate in work plan consortium established work plans for
301–216–0529 or electronically by email implementation. September 15 will be a four technical working groups with the
to stephanie.shaw@nist.gov. new sample thinkshop to discuss new following responsibilities:
All visitors to the NIST site are GIAB genomes in parallel with a data (1) Reference Material (RM) Selection
required to pre-register to be admitted. jamboree to develop high-confidence and Design: select appropriate sources
Please submit your name, time of calls for difficult variants and difficult for whole genome RMs and identify or
arrival, email address and phone regions. September 16 will be the design synthetic DNA constructs that
number to Serena Martinez by 5:00 p.m. plenary session to present GIAB could be spiked-in to samples for
Eastern Time, Tuesday, October 11, progress updates and emerging measurement assurance.
2016. Non-U.S. citizens must submit technical work. (2) Measurements for Reference
additional information; please contact DATES: The Genome in a Bottle Material Characterization: design and
Mrs. Martinez. Mrs. Martinez’s email Consortium meeting will be held on carry out experiments to characterize
address is serena.martinez@nist.gov and Thursday, September 15, 2016 from 9:00 the RMs using multiple sequencing
her phone number is 301–975–2661. For a.m. to 5:30 p.m. Eastern Time and methods, other methods, and validation
participants attending in person, please Friday, September 16, 2016 from 8:30 of selected variants using orthogonal
note that federal agencies, including a.m. to 2:00 p.m. Eastern Time. technologies.
NIST, can only accept a state-issued Attendees must register by 5:00 p.m. (3) Bioinformatics, Data Integration,
driver’s license or identification card for Eastern Time on Thursday, September and Data Representation: develop
access to federal facilities if such license 8, 2016. methods to analyze and integrate the
or identification card is issued by a state data for each RM, as well as select
ADDRESSES: The meeting will be held in
that is compliant with the REAL ID Act appropriate formats to represent the
Lecture Room A, Lecture Room B, and
of 2005 (Pub. L. 109–13), or by a state data.
the Green Auditorium, Building 101, (4) Performance Metrics and Figures
that has an extension for REAL ID National Institute of Standards and
compliance. NIST currently accepts of Merit: develop useful performance
Technology, 100 Bureau Drive, metrics and figures of merit that can be
other forms of federal-issued Gaithersburg, MD 20899. Please note
identification in lieu of a state-issued obtained through measurement of the
admittance instructions under the RMs.
driver’s license. For detailed SUPPLEMENTARY INFORMATION section of
The products of these technical
information please contact Mrs. this notice. working groups will be a set of well-
Martinez at 301–975–2661 or visit: FOR FURTHER INFORMATION CONTACT: For characterized whole genome and
http://nist.gov/public_affairs/visitor/. further information contact Justin Zook synthetic DNA RMs along with the
Kent Rochford, by email at jzook@nist.gov or by phone methods (documentary standards) and
Associate Director for Laboratory Programs. at (301) 975–4133 or Marc Salit by email reference data necessary for use of the
[FR Doc. 2016–20121 Filed 8–22–16; 8:45 am]
at salit@nist.gov or by phone at (650) RMs. These products will be designed to
350–2338. To register, go to: https:// help enable translation of whole genome
BILLING CODE 3510–13–P
appam.certain.com/profile/form/ sequencing to regulated clinical
index.cfm?PKformID=0x311041593. applications. The pilot NIST whole
DEPARTMENT OF COMMERCE SUPPLEMENTARY INFORMATION: Clinical genome RM 8398 was released in May
application of ultra-high throughput 2015 and is available at http://
National Institute of Standards and sequencing for hereditary genetic tinyurl.com/giabpilot. The consortium is
Technology diseases and oncology is rapidly currently analyzing and integrating data
growing. At present, there are no widely from two trios that are candidate NIST
Genome in a Bottle Consortium— accepted genomic standards or RMs. The consortium meets in
Progress and Planning Workshop quantitative performance metrics for workshops two times per year, in
AGENCY: National Institute of Standards confidence in variant calling. These January at Stanford University in Palo
& Technology (NIST), Commerce. standards and quantitative performance Alto, CA, and in August at the National
ACTION: Notice of public workshop. metrics are needed to achieve the Institute of Standards and Technology
confidence in measurement results in Gaithersburg, MD. At these
SUMMARY: NIST announces the Genome expected for sound, reproducible workshops, including the last meetings
in a Bottle (GIAB) Consortium meeting research and regulated applications in at Stanford in January 2016 and at NIST
to be held on Thursday and Friday, the clinic. On April 13, 2012, NIST in August 2015, participants in the
September 15 and 16, 2016. The convened the workshop ‘‘Genome in a consortium have discussed progress in
Genome in a Bottle Consortium is Bottle’’ to initiate a consortium to developing well-characterized genomes
developing the reference materials, develop the reference materials, for NIST Reference Materials and
reference methods, and reference data reference methods, and reference data planned future experiments and
needed to assess confidence in human needed to assess confidence in human analysis of these genomes (see https://
whole genome variant calls. A principal whole genome variant calls federalregister.gov/a/2012-18064,
motivation for this consortium is to (www.genomeinabottle.org). On August https://federalregister.gov/a/2013-
enable performance assessment of 16–17, 2012, NIST hosted the first large 18934, https://federalregister.gov/a/
sequencing and science-based public meeting of the Genome in a 2014-18841, https://federalregister.gov/
regulatory oversight of clinical Bottle Consortium, with about 100 a/2015-01158, and https://
sradovich on DSK3GMQ082PROD with NOTICES
sequencing. The purpose of this meeting participants from government, academic www.federalregister.gov/articles/2016/
is to update participants about progress institutions, and industry. This meeting 01/05/2015-33140/genome-in-a-bottle-
of the consortium work, continue to get was announced in the Federal Register consortium-progress-and-planning-
broad input from individual (77 FR 43237) on July 24, 2012. A workshop for announcements of past
stakeholders to update or refine the principal motivation for this consortium workshops at NIST and Stanford). The
consortium work plan, continue to is to enable science-based regulatory January 2016 meeting was announced in
broadly solicit consortium membership oversight of clinical sequencing. the Federal Register (81 FR 226) on
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![Federal Register / Vol. 81, No. 163 / Tuesday, August 23, 2016 / Notices 57565
January 5, 2016, and the meeting is registration, catch, and unloading III. Data
summarized at https://docs.google.com/ information from operators of United OMB Control Number: 0648–0218.
document/d/1VdP96SYCPcZZvX States (U.S.) purse seine vessels fishing Form Number(s): None.
prowMq8rp6FURCxSh1uo4Dd1tTpJY/ within a large region of the western and Type of Review: Regular submission
edit?usp=drive_web. central Pacific Ocean, which is (extension of a currently approved
There is no cost for participating in governed by the Treaty on Fisheries collection).
the consortium. No proprietary between the Governments of Certain Affected Public: Business or other for-
information will be shared as part of the Pacific Island States and the profit organizations.
consortium, and all research results will Government of the United States of Estimated Number of Respondents:
be in the public domain. America. The Treaty, along with its 41.
All attendees are required to pre- annexes, schedules and implementing Estimated Time per Response: License
register. Anyone wishing to attend this agreements, was signed in Port Moresby, application, 15 minutes; VMS
meeting must pre-register at https:// Papua New Guinea, in 1987. This registration application, 45 minutes;
appam.certain.com/profile/form/ collection of information is required to catch report, 1 hour; and unloading
index.cfm?PKformID=0x311041593 by meet U.S. obligations under the Treaty. logsheet, 30 minutes.
5:00 p.m. Eastern Time on Thursday,
The Treaty authorizes U.S. tuna Estimated Total Annual Burden
September 8, 2016, in order to attend.
vessels to fish within fishing zones of a Hours: 402.
Kent Rochford, large region of the Pacific Ocean. The Estimated Total Annual Cost to
Associate Director for Laboratory Programs. South Pacific Tuna Act of 1988 (16 Public: $143,121 in recordkeeping/
[FR Doc. 2016–20120 Filed 8–22–16; 8:45 am] U.S.C. 973–973r) and U.S. reporting costs.
BILLING CODE 3510–13–P implementing regulations (50 CFR part IV. Request for Comments
300, subpart D) authorize the collection
of information from participants in the Comments are invited on: (a) Whether
DEPARTMENT OF COMMERCE Treaty fishery. Vessel operators who the proposed collection of information
wish to participate in the Treaty Fishery is necessary for the proper performance
National Oceanic and Atmospheric must submit annual vessel license and of the functions of the agency, including
Administration registration (including registration of whether the information shall have
vessel monitoring system (VMS) units) practical utility; (b) the accuracy of the
Proposed Information Collection; agency’s estimate of the burden
applications and periodic written
Comment Request; South Pacific Tuna (including hours and cost) of the
reports of catch and unloading of fish
Act proposed collection of information; (c)
from licensed vessels. They are also
AGENCY: National Oceanic and required to ensure the continued ways to enhance the quality, utility, and
Atmospheric Administration (NOAA), operation of VMS units on board clarity of the information to be
Commerce. licensed vessels, which is expected to collected; and (d) ways to minimize the
require periodic maintenance of the burden of the collection of information
ACTION: Notice.
units. The information collected is on respondents, including through the
SUMMARY: The Department of submitted to the Pacific Islands Forum use of automated collection techniques
Commerce, as part of its continuing Fisheries Agency (FFA) through the U.S. or other forms of information
effort to reduce paperwork and government, NOAA’s National Marine technology.
respondent burden, invites the general Fisheries Service (NMFS). The license Comments submitted in response to
public and other Federal agencies to and registration application information this notice will be summarized and/or
take this opportunity to comment on is used by the FFA to determine the included in the request for OMB
proposed and/or continuing information operational capability and financial approval of this information collection;
collections, as required by the responsibility of a vessel operator they also will become a matter of public
Paperwork Reduction Act of 1995. record.
interested in participating in the Treaty
DATES: Written comments must be fishery. Information obtained from Dated: August 18, 2016.
submitted on or before October 24, vessel catch and unloading reports is Sarah Brabson,
2016. used by the FFA to assess fishing effort NOAA PRA Clearance Officer.
ADDRESSES: Direct all written comments and fishery resources in the region and [FR Doc. 2016–20080 Filed 8–22–16; 8:45 am]
to Jennifer Jessup, Departmental to track the amount of fish caught BILLING CODE 3510–22–P
Paperwork Clearance Officer, within each Pacific island state’s
Department of Commerce, Room 6616, exclusive economic zone for fair
14th and Constitution Avenue NW., disbursement of Treaty monies. DEPARTMENT OF COMMERCE
Washington, DC 20230 (or via the Maintenance of VMS units is needed to
Internet at JJessup@doc.gov). ensure the continuous operation of the National Oceanic and Atmospheric
VMS units, which, as part of the VMS Administration
FOR FURTHER INFORMATION CONTACT:
Requests for additional information or administered by the FFA, are used as an
copies of the information collection enforcement tool. If the information is RIN 0648–XE794
instrument and instructions should be not collected, the U.S. government will
not meet its obligations under the Atlantic Highly Migratory Species;
directed to Tom Graham, (808) 725–
sradovich on DSK3GMQ082PROD with NOTICES
Treaty, and the lack of fishing Advisory Panel for Atlantic Highly
5032 or tom.graham@noaa.gov. Migratory Species Southeast Data,
information will result in poor
SUPPLEMENTARY INFORMATION: Assessment, and Review Workshops
management of the fishery resources.
I. Abstract AGENCY: National Marine Fisheries
II. Method of Collection
The National Oceanic and Service (NMFS), National Oceanic and
Atmospheric Administration (NOAA) All information should be submitted Atmospheric Administration (NOAA),
collects vessel license, vessel in hard copy via mail. Commerce.
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Document Created: 2018-02-09 11:40:36
Document Modified: 2018-02-09 11:40:36
| 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, September 15, 2016 from 9:00 a.m. to 5:30 p.m. Eastern Time and Friday, September 16, 2016 from 8:30 a.m. to 2:00 p.m. Eastern Time. Attendees must register by 5:00 p.m. Eastern Time on Thursday, September 8, 2016. | |
| 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://appam.certain.com/profile/form/ index.cfm?PKformID=0x311041593. | |
| FR Citation | 81 FR 57564 |
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