NHGRI Genome Sequencing Program (GSP)

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


The NHGRI Genome Sequencing Program (GSP)

The NHGRI Genome Sequencing Program Program History Data Access and Release Sequencing Policies
 
Tree of life, human, bacteria, fly, mouse, dog
Scientific Organization Scientific Organization
Program Overview Program Overview
Active Sequencing Projects Active Sequencing Projects
How to Access Sequencing Data How to Access Sequencing Data
Process for Selecting New Sequencing Targets Process for Selecting New Sequencing Targets
Sequencing Policies Sequencing Policies
Outside Resources Outside Resources
Program Contacts Program Contacts
 
Approved Sequencing Targets
A comprehensive listing of all NHGRI-sponsored large-scale sequencing projects.

The sequencing program of the National Human Genome Research Institute has expanded beyond the Large-scale Genome Sequencing and Analysis Centers in response to changing scientific opportunities and the Strategic Plan for Genomics. The program is now comprised of the following components :

In addition to pursuing fundamental questions in the genomics of biology and disease that can be addressed at large scale, the program now also includes a focused effort to elucidate the genomic basis for Mendelian diseases; an effort to uncover the significant issues that arise in applying genome sequencing in a clinical setting; and an effort to develop informatic tools that will enable the wider dispersion of high-throughput sequencing data for biology and biomedical applications.

Press Release: NHGRI broadens sequencing program focus on inherited diseases, medical applications

NOTE: These Web pages are under revision to reflect the new program organization and goals.


DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP)
The costs associated with DNA sequencing performed at the sequencing centers funded by the Institute has served as an important benchmark for assessing improvements in DNA sequencing technologies and for establishing the DNA sequencing capacity of the NHGRI Genome Sequencing Program (GSP). Here, NHGRI provides an analysis of these data, which gives one view of the remarkable improvements in DNA sequencing technologies and data-production pipelines in recent years.


Scientific Organization

The NHGRI Genome Sequencing Program (GSP) 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 NHGRI Genome Sequencing Program (GSP) is depicted on the following page.

The NHGRI Genome 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:

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 Genome Sequencing and Analysis Centers (LSAC).

The current funded sequencing centers are:

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 solicitations, funded in December 2010, are:

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.

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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 Policies for 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.

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Outside Resources

The NHGRI Genome Sequencing Program (GSP) sponsors several activities related to large-scale sequencing. One was 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
Other Major Centers
Resources
Other

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Program Contacts

Adam Felsenfeld, Ph.D.
E-mail: felsenfa@exchange.nih.gov

Heidi Sofia, Ph.D.
E-mail: heidi.sofia@nih.gov

Lu Wang, Ph.D.
E-mail: wanglu@mail.nih.gov

Kris Wetterstrand, M.S.
(Sequencing Costs)
E-mail: wettersk@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: February 10, 2014