Workshop Report

National Human Genome Research Institute

LONG-TERM MAINTENANCE OF GENOME SEQUENCE ASSEMBLIES:

HUMAN AND OTHER GENOMES

November 8-9, 2004

*Hyatt at Dulles International Airport*

*Herndon, Virginia*

**Context:** The contributions of whole genome sequence data to 21st
century biology will be inestimable. The research community already
relies heavily on these sequences and their inferred gene products, and
it is essential that these information resources remain at the state of
the art for the foreseeable future.

The current approach to sequence production, annotation, and analysis of
many genomes (including human), however, does not provide continuing
mechanisms or incentives for on-going maintenance at a state-of-the-art
level. If anything, the continuing elevation in the output of sequence
data and the pressures of funding limitations exacerbate the problem by
reinforcing the need for centers to move quickly and efficiently from
one genome sequencing project to the next.

For those genomes that have been completed to the current standards of
"finished," the further improvements that will be made are likely to be
sporadic and localized because the remaining problems must be addressed
in a targeted way. Similarly, any corrections will also be very
specific. Nonetheless, most of these small changes are likely to be
biologically significant and will accumulate over time. Thus, there is a
need for a coordination mechanism to insure that the on-going changes to
a "finished" genome are all validated and incorporated into a single
high-quality reference sequence.

By contrast, the changes expected in those genomes that have currently
been sequenced to a "draft" quality will be different. For example,
algorithmic improvements to whole-genome shotgun (WGS) assemblers could
produce wholesale changes to the sequence and structure of a WGS draft
genome, even in the absence of additional sequence reads. In addition,
it is likely that there will be more than one version of such a
sequencing product that will result in competing views of that genome.
It will thus be highly desirable to have a process to establish an
agreed-upon working version for the community. .

Thus, there are significant but somewhat different challenges in the
challenge of on-going maintenance for both finished and whole genome
shotgun-assembled draft genome sequences.

**Aim:** The purpose of the workshop was to explore possible models to
ensure that the research community will continue to receive maximum
benefit from the investment in whole genome sequences of human and other
eukaryotic species, long after the sequences and annotations have
entered the public domain.

**Summary:** The workshop focused on the two most pressing situations:

-   what are the maintenance needs for the human (and in the future the
    mouse) genome, now that it is finished and published; and

-   what should to be done for the multiple draft genomes that have
    been, or will soon be sequenced, once the sequencing center that
    produced the assembled genome moves on to other projects and
    relinquishes responsibility for further improvement of the genome.

Neither of these activities is explicitly funded at present, but both
will be necessary to avoid a diminution in the utility of the data over
time.

Even though the human genome is finished, it undoubtedly will continue
to be updated as recalcitrant gaps are closed. Furthermore, additional
data will become available as human genomic DNA is resequenced, e.g. in
variation studies that will inevitably reveal inconsistencies, or as an
opportunity arises for improvement in the existing reference sequence.
At present, responsibility for maintaining the human genome sequence is
currently organized at the individual chromosome level and is
distributed among several centers and funding agencies. Specific
sequencing centers still having responsibility for the individual
chromosomes they managed at the end of the Human Genome Project.
Therefore, updates must be directed to one of the seven centers that are
each responsible for specific regions of the genome. The centers have
varying levels of support for receiving reports of new information and
incorporating needed changes. However, it is likely that, in the long
term, the necessary maintenance functions will no longer be supported at
one or more of these centers; thus, the current situation is, at best,
semi-stable. In the longer run, this instability raises several issues,
such as: To whom will users report errors? How will corrections or
updates be made? Without clear answers to these questions, the reference
human genome sequence will, over time, not reflect the contemporary
state of knowledge. In a discussion at the workshop, it was mentioned
that, in the case of the finished sequence of another organism, this
circumstance is unfortunately already occurring.

Most draft whole genome sequences are also currently maintained by the
sequencing center(s) that generated them. And again, the primary
sequencing centers are, in most cases, funded for a project only to the
point of releasing a high quality assembly, and publishing an analysis
of the results. The lack of continued centralized maintenance for draft
genome sequences could also result in one or more of several
difficulties for users. First, as assembly algorithms improve, the
potential quality of the assembly may improve, even in the absence of
additional sequence data. How can it be assured that the quality of the
assembly that is available to the community is the best possible, within
the limits of the available data? Second, all the raw (trace) data are
available for the draft sequences generated within the past several
years, which has already led to the existence of multiple assemblies,
based on the same data, for a single species. While the research
community is best served by a stable consensus assembly for the purposes
of annotation and analysis, at present there is no systematic process
for establishing such a resource. Thus, it would be very useful to have
an entity that could evaluate assemblies and issue regular updates for
the community on a continuing basis.

Finally, the workshop participants noted that it may not be possible to
completely separate maintenance and annotation activities. For example,
annotation of gene models, using available cDNA information, is one of
the best ways to validate assemblies. Therefore the feedback between
annotation and assembly validation should be maintained.

**Specific Conclusions and Recommendations:**

I. [Maintenance of the Finished Human Genome Sequence]{.underline}

-   A single, central "entity" should be established that would be
    responsible for coordinating the interactions between
    sequence/assembly inputs, communities, and funding agencies. It
    would be preferable for this entity to be at a single site, but, if
    multiple locations have to be involved, they should function in a
    highly coordinated way, effectively as a single entity. The entity
    should be international in scope. For the time being, while this
    entity is being organized, the existing centers could continue to
    provide this function, although the minimum region of responsibility
    should be a single chromosome.

-   The responsible entity must have computational, experimental (to
    resolve discrepancies directly), and social capabilities (outreach
    and coordination). .

> It must have exclusive authority to modify records.

-   It must ensure the transmissibility of information (e.g., audit
    trails, good documentation).

-   It must be able to maintain clone resources (although it may not
    need to be a distributor of these resources).

-   It should make it easy for investigators to submit information that
    could improve or augment the reference sequence.

-   It should have a commitment to periodic updates.

-   It should have an outside advisory group.

-   Funding agencies and sequencing centers need to define the point at
    which the centers have fulfilled their obligations and should hand
    over authority to the responsible entity.

-   The community (sequencers, databases, users) must define how the
    reference sequence is to be represented. For example, the finished
    human sequence is, at present, a mosaic because it was derived from
    the DNA of a number of individuals. It includes more than one
    haplotype and, in some number of genes, includes mutations. Should
    this representation be maintained as the reference because it was
    the originally published sequence, or should a "cleaned up,"
    "idealized" version be developed over time? If newer versions of the
    reference sequence are developed, how should the older versions be
    saved?

-   The proposed central entity would initially be responsible for the
    human sequence, but could take on the same responsibilities for the
    mouse sequence once that genome has been finished and the sequence
    published.

-   In the case of other finished genomes, some of the research
    communities (e.g., fly, worm, yeast) are pursuing their own solution
    to genome maintenance issues through their databases. However, these
    communities may need access to sequencing capacity for validation of
    new information that may improve their reference sequences.

[Maintenance of Draft Genome Sequence Assemblies]{.underline}

The agencies responsible for producing draft genome sequences should
foster a community of researchers interested in developing new and
improving existing genome assembly software, and in assessing
assemblies.

-   This (small) research community should be organized in a way that
    encourages comparisons of methods and assemblies, for the purpose of
    assessing assembly methods, improving the reference assemblies and
    undertaking research into assembly consensus and reconciliation.

-   Together with community and experimental input, this community of
    assemblers should be formed into a group to evaluate and choose
    optimal draft assemblies, particularly after the sequencing center
    completes and publishes an analysis of the initial genome assembly.

-   This group should have a commitment to periodic updates of the
    assemblies.

-   The community must establish standards and metrics for assemblies.

-   The availability of data in the trace archive is essential to this
    effort. Improved standards for the trace and ancillary data
    deposited in the trace archive should be developed to ensure that
    these data are of high enough quality to be useful to the community.

-   Equal treatment for all draft genome assemblies is probably not
    feasible; those with strong model organism communities will likely
    have priority.

-   In cases where there is an obvious responsible entity for an
    assembly (i.e., a database), that entity should take the lead for
    maintenance after initial publication by the center; authority for
    updating records should migrate to the entity.

-   In general, it is good for scientific research to have multiple
    contending draft assemblies. But at any given moment there must be
    an agreed-upon reference.

WORKSHOP AGENDA

Monday, November 8

6:30 -- 7:30 p.m. Registration

7:30 -- 8:00 p.m. Introductory Remarks

a\. Francis Collins

b\. Bill Gelbart

8:00 -- 9:30 p.m. Maintaining genomes as state-of-the-art assemblies
(Jane Rogers)

5- to 10-minute presentations on "the problem" from the perspective of:

The sequencing centers: Jane Rogers and Eric Lander

The sequence repositories: Jim Ostell

The model organism databases: Mike Cherry

"Power users": central annotators/browsers: Ewan Birney

The downstream user community: Tom Gingeras

The funding agencies: Adam Felsenfeld

Discussion: What other challenges do we need to anticipate?

Tuesday, November 9

8:00 -- 8:30 a.m. Continental Breakfast

8:30 -- 10:00 a.m. Panel discussion: What to do about human and other
finished genomes (Ewan Birney)

The long-term maintenance challenges for finished genomes are likely to
be similar; they have similar (or at least proportionate) levels of
support for sequencing and annotation, and they are or will be of high
enough quality that they will be relatively stable over time. This
session will emphasize the human genome but also bring in examples from
other finished genomes.

Panelists: G. Schuler, R. Gibbs, R. Wilson, B. Gelbart, R. Young,\
J. Weissenbach

What is a \"reference\" finished genome assembly? How is it likely to
change over time?

Does it serve the needs of the community?

How does the community have feedback into the status of the human and
other finished genomes? How is community feedback evaluated or otherwise
dealt with?

Who has the right/responsibility to revise the sequence?

How will the finished reference sequence enter the "public domain"? What
is a good "stopping point" for the sequencing center on a particular
finished genome?

Assume a sequencing center completely abandons all future work on a
finished genome---no further assembly, annotation, etc. Would this be a
problem? If so, why?

Is there an existing working model that will work for long-term
maintenance for one of the finished model organism genomes?

10:00 -- 10:15 a.m. Break

10:15 -- 11:45 a.m. Panel discussion: What to do about genomes that will
remain draft assemblies (Richard Myers)

Draft assemblies pose a special set of challenges for long-term
maintenance relating to quality and stability. They are of a range of
qualities. With the addition of future data, they may improve. With the
advent of better assemblers, they will improve, and there may be
multiple versions that are difficult to distinguish. How has the problem
been addressed for draft genomes?

Panelists: H. Jacob, G. Myers, M. Brent, D. Church, D. Rokhsar,\
R. Waterston

How do we ensure the best version of a draft genome is presented on a
continuing basis? How should multiple assemblies of the same data be
presented to the community? What are the effects of the conflicting
needs for stability and currency?

How will a draft sequence enter the "public domain"? What is a good
"stopping point" for the sequencing center? How would improvements to
the genomes be incorporated after that?

What is the role of the model organism databases in ensuring long-term
maintenance of draft genomes? Do they have the resources to evaluate
assemblies?

Should anything be done differently in the special case where a draft
genome of an organism is closely related to a finished one?

What should be the responsibilities of the specific organism community
in ensuring long-term maintenance of draft genomes?

To what extent has each model organism group had to deal with these
questions? Is there already a successful model that can be used by
others?

12 noon -- 1:00 p.m. Annotation needs for finished and draft genomes

(Tim Hubbard)

This workshop does not aim to comprehensively address long-term
challenges in annotation. However, primary annotation is so intimately
connected to genome sequence that the effects on annotation need to be
given additional consideration. This session will be a series of talks
from those involved in annotation about what sequence information they
need in order to do annotation, what pitfalls to avoid in organizing a
long-term maintenance effort, and what organization or requirements they
have to make their tasks possible. A range of annotation activities will
be highlighted, from initial automated annotation to curated annotation
to higher level annotation.

10-minute presentations

a\. Robert Kuhn

b\. Kim Pruitt

c\. Richard Durbin

d\. Monte Westerfield

1:00 -- 2:30 p.m. Lunch and Executive Session

2:00 -- 4:00 p.m. Presentation of Proposal and Discussion (Bill Gelbart
and\
Jane Rogers)

How should the responsibilities for long-term curation, especially
maintenance, be fulfilled?

What are the right mechanisms? What are the different solutions for
finished and draft genomes?

What do the funding agencies need to do?

What do the sequencing centers need to do?

What do the databases and annotators need to do?

Does the proposal address all the issues raised?

4:00 p.m. Adjourn

> **WORKSHOP PARTICIPANTS**

**Rolf Apweiler**

Head, Sequence Database Group

European Molecular Biology Laboratory

European Bioinformatics Institute

Wellcome Trust Genome Campus

Hinxton, Cambridge

United Kingdom

44-1223-494435

44-1223-494468 Fax

apweiler@ebi.ac.uk

**Jennifer Baldwin, M.B.A.**

Director

Genome Sequencing and Analysis Platform

Eli and Edythe L. Broad Institute

320 Charles Street

Cambridge, MA 02141

\(617\) 258-5754

\(617\) 452-4588 Fax

jbaldwin@broad.mit.edu

**Ewan Birney, Ph.D.**

Senior Scientist

European Molecular Biology Laboratory

European Bioinformatics Institute

Hinxton, Cambridge

United Kingdom

44-1233-494444

44-1223-494468 Fax

birney@ebi.ac.uk

**Allan Bradley, Ph.D.**

Director

Wellcome Trust Sanger Institute

Wellcome Trust Genome Campus

Hinxton, Cambridge CB10 1SA

United Kingdom

44-1223-494881

44-1223-494714 Fax

abradley@sanger.ac.uk

**Michael R. Brent, Ph.D.**

Associate Professor of Computer Science and\
Genetics

Washington University in St. Louis

Campus Box 1045

1 Brookings Drive

St. Louis, MO 63130

\(314\) 935-6621

brent@cs.wustl.edu

**Lisa D. Brooks, Ph.D.**

Program Director

Genetic Variation Program

National Human Genome Research Institute

National Institutes of Health

Suite 4076

MSC 9305

5635 Fishers Lane

Bethesda, MD 20892-9305

\(301\) 496-7531

\(301\) 480-2770 Fax

brooksl@mail.nih.gov

**J. Michael Cherry, Ph.D.**

Associate Professor (Research)

Department of Genetics

Stanford University

Alway Building, Room M341

300 Pasteur Drive

Stanford, CA 94305-5120

\(650\) 723-7541

\(650\) 725-1534 Fax

cherry@stanford.edu

**Asif Chinwalla, Ph.D.**

Director of Informatics

Genome Sequencing Center

Washington University in St. Louis

Box 8501

4444 Forest Park Boulevard

St. Louis, MO 63108

\(314\) 286-1811

\(314\) 686-1810 Fax

achinwal@watson.wustl.edu

**Deanna Church, Ph.D.**

Staff Scientist

National Center for Biotechnology Information

National Library of Medicine

National Institutes of Health

8600 Rockville Pike

Bethesda, MD 20894

\(301\) 594-5695

church@ncbi.nlm.nih.gov

**Francis S. Collins, M.D., Ph.D.**

Director

National Human Genome Research Institute

National Institutes of Health

Building 31, Room 4B-09

MSC 2152

31 Center Drive

Bethesda, MD 20892-2152

\(301\) 496-0844

\(301\) 402-0837 Fax

francisc@mail.nih.gov

**Valentina Di Francesco, M.S.**

Bioinformatics Program Director

Division of Microbial and Infectious Diseases

National Institute of Allergy and Infectious\
Diseases

National Institutes of Health

Room 6004

MSC 6003

6610 Rockledge Drive

Bethesda, MD 20892-6003

\(301\) 496-1884

\(301\) 480-4528 Fax

vdifrancesco@niaid.nih.gov

**Ian Dunham, Ph.D.**

Head, Molecular Genetics and Proteomics

Wellcome Trust Sanger Institute

Wellcome Trust Genome Campus

Hinxton, Cambridge

United Kingdom

44-1223-834244

id1@sanger.ac.uk

**Richard Durbin, Ph.D.**

Head, Informatics Division

Deputy Director

Wellcome Trust Sanger Institute

Wellcome Trust Genome Campus

Hinxton, Cambridge

United Kingdom

44-1223-834244

44-1223-494919 Fax

rd@sanger.ac.uk

**Janan T. Eppig, Ph.D.**

Senior Staff Scientist

The Jackson Laboratory

600 Main Street

Bar Harbor, ME 04609

\(207\) 288-6422

\(207\) 288-6132 Fax

jte@jax.org

**Adam Felsenfeld, Ph.D.**

Program Director, Large-Scale Sequencing

National Human Genome Research Institute

National Institutes of Health

Building 31, Room B2-B07

MSC 2033

31 Center Drive

Bethesda, MD 20892-2033

\(301\) 496-7531

\(301\) 480-2770 Fax

adam_felsenfeld@nih.gov

**Williiam M. Gelbart, Ph.D.**

Professor of Molecular and Cellular Biology

The Biological Laboratories

Harvard University

16 Divinity Avenue

Cambridge, MA 02138

\(617\) 495-2906

\(617\) 496-1354 Fax

gelbart@morgan.harvard.edu

**Richard Gibbs, Ph.D.**

Director

Human Genome Sequencing Center

Wofford Cain Professor

Baylor College of Medicine

Alkek Building, Room 1519

1 Baylor Plaza

Houston, TX 77030

\(713\) 798-6539

\(713\) 798-4373 Fax

agibbs@bcm.tmc.edu

**Thomas R. Gingeras, Ph.D.**

Vice President for Biological Sciences

Transcriptome Project

Affymetrix, Inc.

3380 Central Expressway

Santa Clara, CA 95051

\(408\) 731-5069

\(408\) 732-7025 Fax

tom_gingeras@affymetrix.com

**Maria Y. Giovanni, Ph.D.**

Assistant Director for Microbial Genomics and\
Advanced Technologies

National Institute of Allergy and Infectious\
Diseases

National Institutes of Health

Room 6007

MSC 6603

6610 Rockledge Drive

Bethesda, MD 20892-6603

\(301\) 496-1884

\(301\) 480-4528 Fax

mgiovanni@niaid.nih.gov

**Peter Good, Ph.D.**

Program Director

National Human Genome Research Institute

National Institutes of Health

Suite 4076

MSC 9305

5635 Fishers Lane

Bethesda, MD 20892-9305

\(301\) 496-7531

\(301\) 480-2770 Fax

peter_good@nih.gov

**Eric D. Green, M.D., Ph.D.**

Director

Division of Intramural Research

Chief, Genome Technology Branch

Director, Intramural Sequencing Center

National Human Genome Research Institute

National Institutes of Health

Room 5222

MSC 8002

50 South Drive

Bethesda, MD 20892-8002

\(301\) 402-2023

\(301\) 402-2040 Fax

egreen@nhgri.nih.gov

**Chris Gunter, Ph.D.**

Senior Editor

Nature

National Press Building, Room 968

529 14th Street, NW

Washington, DC 20045

\(202\) 737-2355

\(202\) 628-1609 Fax

c.gunter@naturedc.com

**Mark Guyer, Ph.D.**

Director

Division of Extramural Research

National Human Genome Research Institute

National Institutes of Health

Suite 4076

MSC 9305

5635 Fishers Lane

Bethesda, MD 20892-9305

\(301\) 496-7531

\(301\) 480-2770 Fax

mark_guyer@nih.gov

**Tim Hubbard, Ph.D.**

Head, Human Genome Analysis

Wellcome Trust Sanger Institute

Wellcome Trust Genome Campus

Hinxton, Cambridge

United Kingdom

44-1223-494983

44-1223-494919 Fax

th@sanger.ac.uk

**Howard J. Jacob, Ph.D.**

Director

Human and Molecular Genetics Center

Warren P. Knowles Endowed Chair in Genetics

Professor

Department of Physiology

Medical College of Wisconsin

Health Research Center, Fifth Floor

8701 Watertown Plank Road

Milwaukee, WI 53226

\(414\) 456-4877

\(414\) 456-6516 Fax

jacob@mcw.edu

**David Jaffe, Ph.D.**

Manager

Whole Genome Assembly

Eli and Edythe L. Broad Institute

320 Charles Street

Cambridge, MA 02141

\(617\) 258-0923

jaffe@broad.mit.edu

**Barbara R. Jasny, Ph.D.**

Supervisory Senior Editor

Science Magazine

American Association for the Advancement\
of Science

1200 New York Avenue, NW

Washington, DC 20005

\(202\) 326-6515

\(202\) 289-7562 Fax

**Shira Katseff**

Scientific Program Analyst

National Human Genome Research Institute

National Institutes of Health

Suite 4076

MSC 9305

5635 Fishers Lane

Bethesda, MD 20892-9305

\(301\) 594-6907

\(301\) 480-2770 Fax

skatseff@mail.nih.gov

**Robert Kuhn, Ph.D.**

Software Engineer

Genome Bioinformatics Group

School of Engineering

University of California, Santa Cruz

Baskin Engineering

Santa Cruz, CA 95064

\(831\) 459-1487

\(831\) 459-4829 Fax

kuhn@soe.ucsc.edu

**Eric Lander, Ph.D.**

Director

Eli and Edythe L. Broad Institute

320 Charles Street

Cambridge, MA 02141

\(617\) 252-1906

\(617\) 258-0903 Fax

lander@broad.mit.edu

**Donna R. Maglott, Ph.D.**

Staff Scientist

National Center for Biotechnology Information

National Library of Medicine

National Institutes of Health

Room 5AS-13B

MSC 6510

45 Center Drive

Bethesda, MD 20892-6510

\(301\) 345-5895

\(301\) 480-0109 Fax

maglott@ncbi.nlm.nih.gov

**Webb Miller, Ph.D.**

Professor of Biology

Pennsylvania State University

Wartik Laboratory, Room 506

University Park, PA 16802

\(814\) 865-4551

\(814\) 863-6699 Fax

<webb@bx.psu.edu>

Ilene Mizrachi, Ph.D.

Staff Scientist

National Center for Biotechnology Information National Library of
Medicine National Institutes of Health Bldg 45, Room 6AS-51 MSC 6510

45 Center Drive

Bethesda, MD 20892-6510

\(301\) 435-5929

\(301\) 480-2918 Fax

mizrachi@ncbi.nlm.nih.gov

**Jim Mullikin, Ph.D.**

Associate Investigator

Genome Technology Branch

National Human Genome Research Institute

National Institutes of Health

Building 50, Room 5318

MSC 8004

50 South Drive

Bethesda, MD 20892-8004

\(301\) 496-2416

\(301\) 480-0634 Fax

mullikin@mail.nih.gov

**Gene Myers, Ph.D.**

Professor

University of California, Berkeley

Mail Stop 1776

Soda Hall, Room 775

Berkeley, CA 94720-1776

\(510\) 599-2156

\(510\) 643-8443 Fax

gene@eecs.berkeley.edu

**Richard M. Myers, Ph.D.**

Professor and Chairman

Department of Genetics

Director

Stanford Human Genome Center

School of Medicine

Stanford University

M-344

300 Pasteur Drive

Stanford, CA 94305-5120

\(650\) 725-9687

\(650\) 725-9689 Fax

myers@shgc.stanford.edu

**Zemin Ning**

Project Leader

Wellcome Trust Sanger Institute

Wellcome Trust Genome Campus

Hinxton, Cambridge CB10 1SA

United Kingdom

44-1223-494705

44-1223-494919 Fax

zn1@sanger.ac.uk

**Chad Nusbaum, Ph.D.**

Co-Director

Genome Sequencing and Analysis

Eli and Edythe L. Broad Institute

320 Charles Street

Cambridge, MA 02141

\(617\) 258-0988

chad@broad.mit.edu

**James Ostell, Ph.D.**

Chief

Information Engineering Branch

National Center for Biotechnology Information

National Library of Medicine

National Institutes of Health

Room 5AS-51

MSC 6510

45 Center Drive

Bethesda, MD 20850-6510

\(301\) 435-5978

\(301\) 480-0109 Fax

ostell@ncbi.nlm.nih.gov

**Jane L. Peterson, Ph.D.**

Associate Director

Division of Extramural Research

National Human Genome Research Institute

National Institutes of Health

Suite 4076

MSC 9305

5635 Fishers Lane

Bethesda, MD 20892-9305

\(301\) 496-7531

\(301\) 480-2770 Fax

jane_peterson@nih.gov

**Matthias Platzer**

Genome Analysis

Institute of Molecular Biotechnology

Beutenbergstrasse 11

07745 Jena

Germany

49-3647-656247

49-3647-656255 Fax

mplatzer@mb-jena.de

**Kim Pruitt, Ph.D.**

Supervisor

National Center for Biotechnology Information

National Library of Medicine

National Institutes of Health

Building 45, Room 6AN-12J

MSC 6510

45 Center Drive

Bethesda, MD 20892-6510

\(301\) 435-5898

\(301\) 480-2918 Fax

**Karen A. Remington, Ph.D.**

Vice President, Bioinformatics Research

J. Craig Venter Institute

Fourth Floor

9704 Medical Center Drive

Rockville, MD 20850

\(240\) 268-2762

\(240\) 268-4000 Fax

kremington@venterinstitute.org

**Jane Rogers, Ph.D.**

Head, Sequencing

Wellcome Trust Sanger Institute

Wellcome Trust Genome Campus

Hinxton, Cambridge

United Kingdom

44-1223-494938

44-1223-494969 Fax

jrh@sanger.ac.uk

**Daniel S. Rokhsar, Ph.D.**

Computational Genomics Department Head

Lawrence Berkeley National Laboratory

2800 Mitchell Drive

Walnut Creek, CA 94598

\(925\) 296-5864

\(925\) 296-5792 Fax

dsrokhsar@lbl.gov

**Steven L. Salzberg, Ph.D.**

Senior Director, Bioinformatics

The Institute for Genomic Research

9712 Medical Center Drive

Rockville, MD 20850

\(301\) 795-7537

salzberg@tigr.org

**Jeremy Schmutz**

Informatics Group Leader

Stanford Human Genome Center

Stanford University

975 California Avenue

Palo Alto, CA 94304

\(650\) 320-5808

\(650\) 320-5801 Fax

jeremy@shgc.stanford.edu

**Greg Schuler, Ph.D.**

Staff Scientist

National Center for Biotechnology Information

National Library of Medicine

National Institutes of Health

Building 45, Room 5AS-55

MSC 6510

45 Center Drive

Bethesda, MD 20892-6510

\(301\) 435-7226

\(301\) 480-2918 Fax

schuler@ncbi.nlm.nih.gov

**Douglas Smith, Ph.D.**

Director

Agencourt Sequencing Center

Agencourt Bioscience Corporation

Suite 2450

500 Cummings Center

Beverly, MA 01915

\(978\) 867-2674

\(978\) 867-2602 Fax

dsmith@agencourt.com

**Robert L. Strausberg, Ph.D.**

Vice President, Human Genomic Medicine

J. Craig Venter Institute

9704 Medical Center Drive

Rockville, MD 20850

\(240\) 268-2708

\(240\) 268-4004 Fax

rls@venterinstitute.org

**Todd Duane Taylor, Ph.D.**

Team Leader

Human Genome Research Group

RIKEN Genomic Sciences Center

1-7-22 Suehiro-cho, Tsurumi-ku

Yokohama, Kanagawa 230-0045

Japan

81-45-503-9285

81-45-503-9176 Fax

taylor@gsc.riken.jp

**Elizabeth Thomson, M.S., R.N.**

Program Director

Ethical, Legal, and Social Implications Program

National Human Genome Research Institute

National Institutes of Health

Suite 4076

MSC 9305

5635 Fishers Lane

Bethesda, MD 20892-9305

\(301\) 496-7531

\(301\) 480-2770 Fax

thomsone@nhgri.nih.gov

**Robert H. Waterston, M.D., Ph.D.**

William H. Gates III Endowed Chair in\
Biomedical Sciences

Chair

Department of Genome Sciences

University of Washington

Health Sciences Building K357

Box 357730

1705 NE Pacific Avenue

Seattle, WA 98195-7730

\(206\) 685-7347

\(206\) 616-5197 Fax

waterston@gs.washington.edu

**George Weinstock, Ph.D.**

Professor and Co-Director

Human Genome Sequencing Center

Baylor College of Medicine

Alkek Building, Room 1619

1 Baylor Plaza

Houston, TX 77030

\(713\) 798-4357

\(713\) 798-4373 Fax

gwstock@bcm.tmc.edu

**Jean Weissenbach, Ph.D.**

Genoscope

2 Rue Gaston Cremieux

CP 5706

91057 Evry cedex

France

33-1-6087-2502

33-1-6087-2532 Fax

jsbach@genoscope.cns.fr

**Monte Westerfield, Ph.D.**

Professor

Department of Biology

Institute of Neuroscience

University of Oregon

Eugene, OR 97403-1254

\(541\) 346-4607

\(541\) 346-4548 Fax

monte@uoneuro.uoregon.edu

**Kris Wetterstrand, M.S.**

Genetics Program Analyst

National Human Genome Research Institute

National Institutes of Health

Suite 4076

MSC 9305

5635 Fishers Lane

Bethesda, MD 20892-9305

\(301\) 496-7531

\(301\) 480-2770 Fax

wettersk@mail.nih.gov

**Richard K. Wilson, Ph.D.**

Professor of Genetics

Director

Genome Sequencing Center

Washington University in St. Louis

Box 8501

4444 Forest Park Boulevard

St. Louis, MO 63108

\(314\) 286-1807

\(314\) 286-1810 Fax

rwilson@watson.wustl.edu

**Huanming Yang, Ph.D.**

Director and Professor

Beijing Genomics Institute

Chinese Academy of Sciences

B6 Beijing Airport Industrial Zone

Beijing, China

yanghm@genomics

86-10-80494969; 86-10-80491181 Fax