Medical Professional Publications

Sequencing the Human Genome in a Fraction of the Time

Nationwide Children’s Is One of the First to Establish Next-Generation Sequencing Capability

Nationwide Children’s is again on the leading edge of scientific research, thanks to a $500,000 National Institutes of Health American Recovery & Reinvestment Act grant recently awarded to director of the Biomedical Genomics Core,Dr. Peter White.

The grant supports development of next-generation sequencing at Nationwide Children’s.  “Advanced sequencing technology has revolutionized genomics research, providing tremendous potential for better understanding human health and disease,” said Dr. White.  “It’s remarkable to think that the first human genome took 15 years and about $3 billion to complete, yet only a few years later, with this new technology we will be able to sequence two human genomes in just over one week for a fraction of that cost.”

The centerpiece of the new program is the HiSeq 2000 system, which offers the latest available instrumentation and infrastructure in support of whole genome DNA sequencing analysis, transcriptome and epigenome analysis, along with multiple other genomic applications.

“We are among the first laboratories in the nation to establish this new instrumentation,” said Dr. White.  “The HiSeq 2000 brings the most technologically advanced genomics capabilities to Nationwide Children’s Hospital and allow us to continue expanding our programs in areas of strategic emphasis, namely, perinatal research, infectious diseases, congenital and acquired heart conditions, digestive diseases and childhood cancer. Access to this instrument in addition to the support from the Biomedical Genomics Core at The Research Institute will be particularly helpful for young investigators, postdoctoral research scientists, physician scientists and clinical fellows.”

Working in collaboration with Dr. White and his team, Nationwide Children’s clinician scientist Kim McBride, MD, will be one of the first to use the new sequencing technology and plans to evaluate the genes among a family with a history of congenital heart defects.  “The technology’s massively parallel sequencing capabilities bypass previous techniques and will advance the field of congenital heart defects genetic research,” said Dr. McBride.  “Unlike linkage analysis and genome wide association studies which use common non-pathogenic variants to identify regions of interest in the disease, this sequencing technology will get directly to the causative genetic variant.” Additional research faculty members are already planning to use the technology in their studies related to autism, lupus, viral vector development, childhood cancer and kidney disease.

The new technology also provides The Research Institute an opportunity to partner with the Ohio Supercomputer Center (OSC), which will provide mass storage space for the immense data files generated by the sequencer.

“The acquisition of a next-generation sequencer at The Research Institute is essential to meet our commitment to enhance the health of children by engaging in high-quality, cutting-edge research according to the highest scientific and ethical standards,” said Dr. White.

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