The National Institutes of Health (NIH) Intramural Sequencing Center (NISC) within the National Human Genome Research Institute (NHGRI), and more broadly across NIH, aims to advance genome sequencing and its many applications, with a goal not simply to produce sequence data, but to produce the infrastructure required to bring genomic sequence to biology and medicine. A key to our success since establishment in 1997 has been to apply state-of-the-art technologies at large scale to answer current scientific questions.
A dedicated team of NISC scientists continually evaluates and implements, where appropriate, new methods, chemistries and instrumentation for nucleic acid sequencing. In addition, application of good manufacturing practices to this operation has gained a more than 90 percent success rate in generating a prodigious amount of data in a cost-efficient manner. We also work closely with other investigators across the NHGRI Intramural Research Program to develop novel methods to analyze genomic data with applicability to clinical and basic science questions that were thought to be intractable only a few years ago.
As a mid-level genome sequencing center, NISC is capable of economically generating data for large projects encompassing thousands of samples. A number of years ago, NISC generated genomic sequences from more than 75 vertebrate species for comparative analyses, leading to discoveries of conserved non-coding elements, which then spun off the Encyclopedia of DNA Elements (ENCODE) project.
Through recent implementation of next-generation sequencing technologies, NISC now provides data to investigators to determine a link between sequence variation and disease. Of note, several large multi-year medical sequencing efforts include the NIH Undiagnosed Diseases Program, the NIH Intramural Skin Microbiome Project and the newly initiated Clinical Center Genomics Opportunity (CCGO).
Dr. Robert Blakesley received his A.B. in biochemistry from the University of California, Berkeley and his Ph.D. in biochemistry from Michigan State University. After completing a postdoctoral fellowship in virology at University of Wisconsin, Madison, Dr. Blakesley joined a molecular biology start-up company, Bethesda Research Laboratories, which later became Life Technologies. As a research and development scientist, he spent more than 20 years leading several groups of scientists in developing a wide range of molecular biology products, including those for DNA sequencing. During his tenure, he was responsible for development of more than 100 commercially successful products and was awarded nine U.S. patents. Since joining NISC, he has provided effective leadership in industrializing many aspects of NISC's sequencing pipeline, leading to remarkable increases in sequencing capacity over the past 14 years.
Dr. Blakesley has successfully kept this pipeline at the cutting edge with respect to technologies, productivity and cost-effectiveness. In addition, he has become a strong intellectual leader in the area of sequence finishing, making important contributions to establishment of finishing strategies suitably crafted for comparative sequence analyses. Currently, Dr. Blakesley oversees NISC's role in providing many NIH investigators next-generation sequence data in order to discover a link between sequence variants and disease. Of note, several large medical sequencing efforts at NISC support the NIH Undiagnosed Diseases program, the NIH Intramural Skin Microbiome Project, the newly initiated Clinical Center Genomics Opportunity (CCGO) and the nearly completed Phase I of the ClinSeq Project.
Dr. Blakesley brings a unique combination of skills to this position, including a working knowledge about the practical application of technologies, a broad background in DNA sequencing and extensive industrial management experience.
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Last Updated: January 5, 2015