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The NHGRI Genome Sequencing Program (GSP)

Tree of life, human, bacteria, fly, mouse, dog



Overview and Purpose 

The Genome Sequencing Program of the National Human Genome Research Institute (NHGRI) is an overarching program established to address current scientific opportunities within the context of the Strategic Plan for Genomics.

On January 14, NHGRI announced that it will fund a new Genome Sequencing Program (GSP) through multiple FOAs:

NHGRI also plans to fund several GSP analysis centers in the Spring of 2016.

The overall aim of the GSP is to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full spectrum, including rare diseases likely to be due to rare variants with strong effects (Mendelian), and common, genetically complex diseases that are caused by many variants. As they do this, they will also develop methods, tools, and knowledge intended to enhance the ability of the community to pursue other human inherited diseases.

The GSP benefits from collaboration and in some cases co-funding from other NIH ICs for work in particular disease areas. At present, the National Heart, Lung and Blood Institute (NHLBI) intends to co-fund both the CCDG and CMG programs; NEI will co-fund the CMG program.  NHGRI has designed both the CMG and CCDG program to be able to readily collaborate on new disease areas.

The newly established CCDG will do this for multiple examples of common human inherited diseases. They will explore a range of project designs and a range of presumed underlying genomic architectures, as comprehensively as possible.  In so doing they will develop resources for the community and develop and optimize technical and project design approaches for using genome sequencing to understand common disease. 

The CMG will identify genes and variants underlying hundreds of Mendelian conditions, and in so doing will also develop tools and know-how relevant to applying genome sequencing to Mendelian conditions.  

In addition, the NHGRI plans to add a separate component to the GSP that will be involved in analyses of the data that take advantage of the range and volume of the data being produced by the program as a whole (See filefor the archived Concept document for this component). 

The previous iteration of the GSP included two additional components:

The Clinical Sequencing and Analysis Centers (CSER). This program is still ongoing; NHGRI is considering what a future version of this program would be. However, going forward the CSER program has a separate enough mission that it will collaborate with but no longer be formally managed as part of the GSP.

The Genome Sequencing Informatics tools (GS-IT) program, which is ending. The overall goals of the GS-IT program will be considered as part of the broader NHGRI Informatics Program

For a summary of the process that led to the current program structure, see: NIH genome sequencing program targets the genomic bases of common, rare disease
January 14, 2016

The solicitations for the current program elements are:

A brief history of the sequencing program is available at: The NHGRI Genome Sequencing Program History

A chart including information on sequencing costs can be found here: DNA Sequencing Costs: Data

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Program Management

All components of The NHGRI Genome Sequencing Program are under continuous programmatic evaluation. NHGRI Staff consults quarterly with a group of scientific advisors to the program about individual grantee and program performance. Program grantees submit quarterly reports that describe progress, including detailed production summaries for the more production-oriented programs. All major program decisions are vetted by the National Advisory Council for Human Genome Research.

In addition, the grantees are organized into a research network; within and between programs, these networks collaborate on matters such as best practices, standards, policies, methods development, data analysis, technology adaptation, and other common interests. All four programs meet with NHGRI Staff and the SAP at an annual meeting.

A coordinating center has been funded and established at Rutgers University through RFA-HG-15-019: Genome Sequencing Program Coordinating Center (U24). The GSP Coordinating Center (GSPCC) will help NHGRI coordinate across all GSP activities - the Centers for Common Disease Genomics (CCDG), the Centers for Medelian Genomics (CMG), and any other program components), and facilitate cross-study activities to increase the integration and efficiency of the program as a whole.

See: Genome Sequencing Program Coordinating Center (GSPCC)

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Data Release and Access Policies

NHGRI data release and access policies for genomic sequence are consistent with NIH policies: Genomic Data Sharing [].

NHGRI data release policies for genome sequence data evolved from the original Bermuda and Ft. Lauderdale policies which were suited for the Human Genome Project data and organismal sequence data. With the advent of projects involving large numbers of samples from human subjects, this area is under continuous evaluation, much of it at the NIH, rather than the NHGRI level. See: for a discussion of the latest NIH policy proposals in this area.

Data Release Policies for the NHGRI GSP

NHGRI requires all programs and projects to release sequence and related data to appropriate databases, including GenBank/Short Read Archive and the assembly archive; dbGaP, and CGHub (for Cancer Genome Atlas data). NHGRI requires rapid pre-publication release of all organismal sequence data and assemblies, and also human data in a manner consistent with the terms of consent under which samples were collected.  

Data Access Policies for the NHGRI GSP

The Large-Scale Sequencing Data Access and Release page contains information on policies and procedures for scientific researchers requiring access to NHGRI-sponsored large-scale sequencing data. In general, access to organismal sequence and assembly data follows the Ft. Lauderdale principles.

Human data access policies vary depending on the repository and consent terms; however, as above, NHGRI requires rapid deposition of data in repositories to which all members of the scientific community have equal access.

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Past Workshops

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Program Contacts

Adam Felsenfeld, Ph.D.
(Centers for Common Disease Genomics and Genome Sequencing Program Coordinating Center)

Carolyn Hutter, Ph.D.
(Clinical Sequencing Exploratory Research)

Chris Wellington, B.S.
(Centers for Mendelian Genomics)

Kris Wetterstrand, M.S.
(Sequencing Costs)

Scientific Program Analysts

Kevin Lee

Jonathan Lotempio



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

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

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Last Updated: February 27, 2018

See Also:

Workshop and Priority Setting Reports and from the Extramural Research Program