This area is intended to aid investigators that have mapped Mendelian disorders to intervals of about 10 Mb or less, but can not make further progress due to lack of additional patients to narrow the region or lack of access to sufficient sequencing capacity to sequence a large region. The major justification for this broad proposal was to begin to use NHGRI sequencing capacity more directly and rapidly for the understanding of human disease. The working group expects that the medical impact of some of these projects could be high, but these disorders are rare. Therefore, the main benefit of identifying these genes would be to provide insight into the pathophysiology or biology of the disorders. Individual projects would require resequencing of perhaps 12,000 to 18,000 amplicons.
There are some challenges in identifying disorders that would be appropriate for this project. An initial set of specific disorders has been identified (See Active Sequencing Projects). These are not intended to be representative, but would rather serve as demonstration projects to determine whether, and how, a larger number of such projects would be pursued. Issues to be addressed include obtaining appropriate samples (with adequate existing informed consent or the ability to obtain new consent), interactions between sequencing centers and those with samples, understanding how many affected and control samples are needed, and providing appropriate results and analyses usable by the community.
At this stage, NHGRI has not solicited additional projects in this area.
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