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Medical Sequencing Pilot Project Announcement

Pilot projects to characterize the spectrum of alleles influencing complex diseases and medical traits

The National Human Genome Research Institute (NHGRI) is providing an opportunity to the research community for the medical sequencing of samples from existing population studies.

Given the progress on the HapMap and the many disease association studies that are about to be undertaken, NHGRI is considering how best to develop the technology and methods that will be required for the next steps of this research. As part of its Medical Sequencing Program, NHGRI aims to support the development of high-throughput sequencing technology so that it can be used for studies relating genetic variation to health and disease.

NHGRI will support pilot projects in three areas that will help push the technology forward and identify the bottlenecks: autosomal Mendelian disorders, X-linked disorders and complex diseases. NHGRI is already beginning work in the first two areas, and is looking for groups that would like to participate in the area of complex diseases.

Pilot Projects for Complex Diseases

For each complex disease project, the regions of genes known to affect phenotypes related to the disease will be sequenced in population samples that have already been collected with a rich set of phenotypes and (possibly) lifestyle and environmental data. The goal is to discover the distribution of the frequency of variants (common vs. rare) that affect the phenotypes, the types of variants (SNPs, insertion/deletions, and other structural variants), their distribution in coding and non-coding regions, the associations among the variants, and the associations of phenotypes with the variants and with lifestyle and environmental factors.

NHGRI is asking for your help in identifying such population studies and would be grateful if you could forward this Web page URL - - that includes the attached full description of the project, to the PIs of those studies, to researchers who analyze these sorts of data sets, and to any other investigators who might be appropriate or interested in hearing about this effort.

The sequencing will be done by NHGRI-funded sequencing centers, so no funds will be distributed for these pilot projects.

The analysis of the data will be done as collaborations among the investigators who provide the samples and associated data, the sequencers, and statistical, genetic, and epidemiological analysts. NHGRI plans to make the data available to the community on a rapid timeline, within the constraints of appropriate human subjects protections, so that these data sets become community resources.

NHGRI hopes this program represents an opportunity for researchers to obtain data sets that they otherwise could not easily produce, either because of access to appropriate resources or insufficient funding.

For a full project description, see: Pilot projects to characterize the spectrum of alleles influencing complex diseases and medical traits Microsoft Word Icon

The letters of interest from groups of investigators are due to NHGRI:

Friday, January 6, 2006.

Questions should be directed to the contacts listed below. In addition, to avoid overlap, please report any related projects.


Adam Felsenfeld
Program Director
The NHGRI Genome Sequencing Program (GSP), NHGRI
(301) 435-5539

Lisa Brooks
Program Director
Genomic Variation Program, NHGRI
(301) 435-5544

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Last Reviewed: October 24, 2011

See Also:

Medical Sequencing Program