The National Advisory Council for Human Genome Research (NACHGR) recently approved a plan for NHGRI's Large-Scale Sequencing Network that, for the first time, includes a portfolio of "medical sequencing" projects. Projects given the highest priority will use large-scale sequencing over the next few years to identify the genes responsible for dozens of relatively rare, single-gene (autosomal Mendelian) diseases; sequence all of the genes on the X chromosome from affected individuals to identify those involved in sex-linked diseases; and to survey the range of variants in genes known to contribute to some common diseases. The launch of each project will depend on a number of factors, including the strategic selection of specific diseases and the availability of patient samples with appropriate informed consent.
In addition to the new focus on medical sequencing, the plan continues NHGRI's emphasis on using comparative genomic sequencing analysis to understand the structure and function of the human genome and the biological processes at work in human health and disease. The strategy includes a mix of whole genome sequencing, genome mapping and sequencing of genomic regions chosen for their scientific merits. Additionally, NACHGR approved the refinement of several existing draft genome sequences and targeted a group of seven additional non-mammalian organisms for sequencing.
"Medical sequencing has the potential to make a substantial impact on both biological and medical research. While many of the genes we will initi
Contact: Geoff Spencer
NIH/National Human Genome Research Institute