The National Advisory Council for Human Genome Research, which is a federally chartered committee that advises NHGRI on program priorities and goals, recently approved three plans to specify the targets as part of its comprehensive strategy for NHGRI's Large-Scale Sequencing Research Network
"The goal of our sequencing program is to build the most powerful toolbox possible for advancing human health. By identifying and seeking to fill crucial gaps in our knowledge, these new sequencing plans represent yet another important step in that direction," said NHGRI Director Francis S. Collins, M.D., Ph.D.
The plan given the highest priority is a project to identify structural variations in the human genome, which will characterize the most common types of structural variation in human DNA. The effort will use 48 human DNA samples donated for the recently completed International HapMap Project, which produced a comprehensive catalog of human genetic variation, or haplotypes, designed to speed the search for genes involved in common diseases. The HapMap identified neighborhoods of tiny changes in DNA known as single nucleotide polymorphisms (SNPs) that can be involved in human disease. The structural variation effort will seek to identify instances where larger segments of DNA have been deleted, duplicated or rearranged all of which can cause disease by disrupting the structure and function of genes.
A recent analysis has shown that these large-scale structural variations are much more common than previously appreciated. In fact, the genomes of any two humans are thought to differ by several hundred insertions, deletio
Contact: Geoff Spencer
NIH/National Human Genome Research Institute