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NHGRI Earmarks Portion of Sequencing Capacity for Medical Sequencing Efforts

NEW YORK, Oct. 17 (GenomeWeb News) - The National Human Genome Research Institute said today that it will devote a portion of its large-scale sequencing capacity to medical sequencing efforts focused on identifying the genetic causes of specific diseases.


According to the NHGRI, the highest priority projects will be those involving "large-scale sequencing over the next few years to identify the genes responsible for dozens of relatively rare, single-gene diseases; [sequencing of] all of the genes on the X chromosome from affected individuals to identify those involved in sex-linked diseases; and [surveying] the range of variants in genes known to contribute to some common diseases."


The NHGRI added that "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."


However, the first project is expected to begin in the next 12 months and be a "demonstration project to find the genetic variations responsible for seven rare, autosomal Mendelian disorders," the institute said. This initial effort is expected to "establish the best procedures for obtaining quality samples, for determining the minimum number of affected and control samples needed, and for deciding how the data will be released to the biomedical research community."


Additional information can be found on the NHGRI's website here.


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