HomeResearchExtramural Research The Large-Scale Genome Sequencing Program

The Large-Scale Genome Sequencing Program

The Large-Scale Genome Sequencing Program Program History Data Access and Release Sequencing Policies

Scientific Organization Program Overview Active Sequencing Projects How to Access Sequencing Data Process for Selecting New Sequencing Targets Sequencing Policies Outside Resources Program Contacts Approved Sequencing Targets A comprehensive listing of all NHGRI-sponsored large-scale sequencing projects.

The Future of Genome Sequencing
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Scientific Organization

The Large-Scale Genome Sequencing Program is composed of several broad research programs. The National Human Genome Research Institute (NHGRI) engages in specific initiatives and sequencing projects that comply with the aims of these research programs. The scientific organization of the Large-Scale Genome Sequencing Program is depicted on the following page.

• Click for Complete Scientific Organization Diagram
  
  

The Large-Scale Sequencing Program is under continuous programmatic evaluation. New scientific opportunities arise with some regularity as technology and the state of knowledge change. The program will change over time to address those opportunities.

The Program is composed of broad research programs in:

• Human Medical Sequencing
• Human Genetic Variation
• Comparative Sequencing to Understand the Human Genome
• Sequencing the Human Microbiome
• Pathogens and Vectors (with NIAID)

Program Overview

The National Human Genome Research Institute (NHGRI) funds large-scale genome sequencing capacity at several centers located in the U.S. This program undertakes large-scale sequencing projects to provide critical genomic information that can be of significant value to the scientific community in areas of very broad scientific interest.

NHGRI issues competitive solicitations for cooperative agreements for large-scale sequencing centers. Applications are reviewed by the normal NIH peer-review mechanism. The funding of sequencing capacity is done separately from the selection of new sequencing projects. FY 2006 funding was approximately $130M or over 150 billion raw Q20 base pairs per year.

The sequencing centers are organized into a research network, with oversight by NHGRI program staff in conjunction with the Scientific Advisors to the Large-Scale Sequencing Program.

The current funded sequencing centers are:

• Baylor College of Medicine Human Genome Sequencing Center [hgsc.bcm.tmc.edu]
• The Broad Institute Genome Sequencing Center [braod.mit.edu]
• The Washington University, St. Louis Genome Sequencing Center [genome.wustl.edu]

In addition to these outside centers, the NHGRI Division of Extramural Research funds sequencing capacity at the National Institutes of Health Intramural Sequencing Center (NISC).

The most recent competitive solicitation, funded in December 2006, can be viewed at: RFA-HG-O6-001.html: Genome Sequencing Centers (U54) [grants.nih.gov]

The NHGRI Large-Scale Genome Sequencing Program grew from the effort to sequence the human genome. Please see Program History to learn more about the development and aims of the program.

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Active Sequencing Projects

The Approved Sequencing Targets page contains a comprehensive listing of all NHGRI-sponsored large-scale sequencing projects in a sortable table.

Information on Bacterial Artificial Chromosome resources can be found on the following pages:

• Bacterial Artificial Chromosome (BAC) Resource Network
• BAC Library Proposals and Information

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How to Access Sequencing Data

The Large-Scale Sequencing Data Access and Release page contains information on policies and procedures for scientific researchers that would like to gain access to NHGRI-sponsored large-scale sequencing data.

A separate set of Medical Sequencing Data Access policies and procedures has been developed due to the nature of human genomic data.

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Process for Selecting New Sequencing Targets

Please see the Target Selection page for detailed information on the process for selecting new sequencing targets.

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Sequencing Policies

All major policies are reviewed by the National Advisory Council for Human Genome Research.

General policies for data release were determined at a series of meetings of the genomics community. NHGRI is committed to the rapid release of all sequence data from community resource projects. All trace data are released rapidly (within a week) of their production into the public Trace Archive [ncbi.nlm.nih.gov]. Genome assemblies are released as soon as they have been validated.

Specific technical policies for sequencing (for example, the quality standards for human and mouse sequence) are determined by the sequencing centers, together with the funding agencies.

See Large-Scale Sequencing Policiesfor a description of the general Large-Scale Sequencing Program policies.

Medical Sequencing policies (informed consent, data deposition, data access) are created with advice from the Medical Sequencing Working Group and additional outside advisors. Because human research participants are involved, access to some Medical Sequencing data is controlled.

See Medical Sequencing Policies for a description of these policies.

• Large-Scale Sequencing Policies

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Outside Resources

The NHGRI Large-Scale sequencing program sponsors several activities related to large-scale sequencing. One is the construction and distribution of BAC libraries. Another is the Human Genome Reference Consortium (HGRC), a collaborative effort between NHGRI, the National Center for Biotechnology Information (NCBI), the European Bioinformatics Institute (EBI), and the Wellcome Trust Sanger Institute (WTSI). The HGRC aims to maintain, update, and curate the human genome reference sequence.

Currently Funded Sequencing Centers

• The Broad Institute [broad.mit.edu]
• Baylor College of Medicine Human Genome Sequencing Center [hgsc.bcm.tmc.edu]
• Washington University Genome Sequencing Center [genome.wustl.edu]

Other Major Centers

• U.S. Department of Energy Joint Genome Institute [jgi.doe.gov]
• Genoscope [cns.fr]
• The Wellcome Trust Sanger Institute [sanger.ac.uk]
• Beijing Genomics Institute [genomecs.org]

Resources

• NCBI GenBank
• European Bioinformatics Institute [ebi.ac.uk]
• UCSC Genome Browser [genome.ucsc.edu]

Other

• International Sequencing Consortium
  Large-scale Sequencing Project Database [intlgenome.org]

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Program Contacts

Adam Felsenfeld, Ph.D. (Medical Sequencing, Annotating the Human Genome, General Information)
E-mail: felsenfa@exchange.nih.gov

Lu Wang, Ph.D. (Human Microbiome Project, Pathogens and Vectors, General Information)
E-mail: wanglu@mail.nih.gov

Brad Ozenberger, Ph.D. (Cancer Sequencing, The Cancer Genome Atlas)
E-mail: bozenberger@mail.nih.gov

Kris Wetterstrand, M.S. (BAC Libraries)
E-mail: wettersk@mail.nih.gov

Jane Peterson, Ph.D. (Human Microbiome Project, General Information)
E-mail: petersoj@mail.nih.gov

Address

National Human Genome Research Institute
National Institutes of Health
5635 Fischers Lane
Suite 4076, MSC 9305
Bethesda, MD 20892-9305

Phone: (301) 496-7531
Fax: (301) 480-2770

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Last Updated: April 29, 2009