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NHGRI Earmarks $5M Annually for Informatics Development under Large-Scale Sequencing Program

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The National Human Genome Research Institute has carved out around five percent of the total budget for its large-scale sequencing program to support the development of informatics tools for sequence analysis.

NHGRI's National Advisory Council of Human Genome Research last week approved a set of recommendations for the program, which is up for renewal in fiscal year 2011. The adopted recommendations include continued support for several large genome centers — which will still comprise up to 85 percent of the program's funding — as well as a number of new initiatives, such as a Center for Mendelian Disorders, exploratory clinical sequencing, and bioinformatics software development, which will each receive less than 10 percent of the program's funds.

NHGRI plans to issue a request for applications for the program this fall, and expects to award the grants in the fall of 2011.

The large-scale sequencing program is currently funded with approximately $110 million per year over four years, and the proposed renewal, for another four years, "could benefit from a similar amount," according to NHGRI, though it added that "both the overall amount of funds made available for large-scale sequencing and the proportion of funds that go to each of the approved initiatives could be adjusted up or down" as the NHGRI planning process progresses.

NHGRI said that it has received a "strong, consistent recommendation" from several sequencing and informatics workshops that it "should encourage the creation of robust, well-documented and well-supported informatics tools for sequence analysis."

The agency acknowledged that many software tools are already available for sequence alignment, whole-genome assembly, and variant calling, but noted that "most of them exist only as custom scientific software at the large-scale sequencing centers."

However, NHGRI said, these centers "have not been incented, or are necessarily the proper sites, to make those tools robust, to compare them to establish the 'best' tool, to provide adequate documentation or user support, or to engineer them into robust high-performing software tools that can be used by the many groups that are becoming involved in genomic sequencing."

In response, NHGRI plans to award grants to groups who will modify sequence analysis software that is already available from genome centers and other sources to make it "robust and available broadly."

NHGRI said that it has not determined whether academic or commercial groups would be better suited for this development, and added that it has received "conflicting advice on this point."

As a result, the initiative will include both small business innovation research and normal grant mechanisms, NHGRI said.

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