3/19/2006

NHGRI Announces New Sequencing Targets

BETHESDA, Md., Wed., Mar. 15, 2006 - The National Human Genome Research Institute (NHGRI), one of the National Institutes of Health (NIH), today announced its latest round of sequencing targets, with an emphasis on enhancing the understanding of how human genes function and how genomic differences between individuals influence the risk of health and disease.

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 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, deletions and inversions.

The second plan will add DNA sequence to existing draft sequences of a number of primate species and add additional sequence information in regions of high biological interest within those genomes.

The third plan includes sequencing the genomes of eight new mammals at low-density draft coverage, which will be generated by sequencing their genomes at two-fold coverage.
Such comparisons between mammalian genomes represent one of the most effective ways to pinpoint the roughly five percent of the 3-billion base pair human genome that is most obviously functional.

genome.gov | 2006 Release: NHGRI Announces New Sequencing Targets

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