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)

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.

[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]


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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 (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]
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