Concept Papers for Two New Sequencing Programs

National Human Genome Research Institute

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


Concept Papers for Two New DNA Sequencing Technology Development Programs

Overview

The following document presents two concept papers that were discussed at the May 19, 2003, meeting of the National Advisory Council for Human Genome Research (NACHGR). The papers describe future plans for the National Human Genome Research Institute and its Sequencing Technology Development Program. The concepts were approved by the Council. NHGRI staff will incorporate comments made by council members as these concepts are converted into formal Requests for Application. No attempt has been made to revise the concept papers based on Council comments. It is anticipated that the RFAs will be issued in the fall of 2003.

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Items for Council Discussion

DNA Sequencing Technology Development Concept Papers
National Advisory Council for Human Genome Research
May 19, 2003

NHGRI is presenting two concept papers for program announcements for DNA Sequencing Technology Development. While the two concepts have several features in common, there are also some differences, so we propose two separate, parallel announcements. In the list of features presented in each concept paper, items that differ between the two concepts/ announcements are highlighted with bold text.

In addition to general comments on those concept papers, NHGRI requests Council members' comments on the following proposals:

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Program Announcement Concept

Near-Term Technology Development for Genome Sequencing

Purpose
The purpose of this program announcement is to solicit grant applications to develop novel technologies for sequencing DNA. Current technologies (as of summer 2003) are able to produce, for approximately $50M, a high-quality draft sequence of a complex genome such as human or mouse (7.7-fold coverage, 6.5-fold coverage in Q20 bases, assembled into 225,000 sequence contigs that are connected by at least two read-pair links into supercontigs [total of 7,418 supercontigs at least 2 kb long], with N50 length for contigs equal to 24.8 kb and for supercontigs equal to 16.9 Mb. Nature 420:520, 2002). Development of technologies that can reduce sequencing cost for a comparable product by two to three orders of magnitude - to approximately $100,000 - will be supported under this program. Technologies/strategies are required to sequence and assemble genomes that have never been sequenced before, e.g., de novo sequencing, as well as to re-sequence genomes from additional individuals to study genetic variation. It is anticipated that initial implementations of the technologies supported under this program will begin producing substantial amounts of sequence data by 2008.

Features:

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Program Announcement Concept

Technology Development for the $1000 Genome

Purpose
The purpose of this program announcement is to solicit grant applications to develop novel technologies for sequencing DNA. Current technologies (summer 2003) are able to produce, for approximately $50M, a high-quality draft sequence of a complex genome such as human or mouse (7.7-fold coverage, 6.5-fold coverage in Q20 bases, assembled into 225,000 sequence contigs that are connected by at least two read-pair links into supercontigs [total of 7,418 supercontigs at least 2 kb long], with N50 length for contigs equal to 24.8 kb and for supercontigs equal to 16.9 Mb. Nature 420:520, 2002). Development of technologies that can reduce sequencing cost by four to five orders of magnitude - to approximately $1,000 - will be supported under this program. Technologies/strategies are required to sequence and assemble genomes that have never been sequenced before, e.g., de novo sequencing, as well as to re-sequence genomes from additional individuals to study genetic variation. It is anticipated that technologies supported under this program will begin producing genomic sequence data by 2013.

New sensing and detection modalities will need to be developed to achieve these goals; it is therefore anticipated that these research programs will require fundamental and engineering research conducted by interdisciplinary teams of investigators. The research conducted in response to this program announcement will entail substantial risk, balanced by outstanding scientific and management plans designed to achieve the very high payoff goals of the solicitation.

Features:

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Last Reviewed: March 1, 2012