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NHGRI charts course for the next phase of genomics research
Date:2/9/2011

isions continuing to expand the understanding of the biology of the genome, including creating more diverse and complete catalogs of genomic and other "-omic" information, along with new tools and technologies to develop and interrogate those catalogs. Investigators in all fields of biomedical research use these resources to identify the functional contributors within the genome that determine normal, healthy biology, as well as those that, when altered, lead to common as well as rare diseases.

The new sequencing technologies, which have been widely adopted in the past three years, are a major driver of the developments in genomics research. "It took all the sequencing capacity in the world about 13 years to produce the first human genome sequence," said co-author Mark Guyer, Ph.D., director of the NHGRI Division of Extramural Research. "In 2003, around the time we completed the Human Genome Project, technology had improved to the point where 100 machines could sequence a human-sized genome in about three months. In 2011, one machine can produce a human-sized sequence in about five days."

DNA sequencing technologies, however, are just one of the tools needed to answer the research questions that will advance human health. Technological improvements in many other areas will be critical to successfully integrate genomic knowledge into clinical care. The plan calls for fast, low-cost and highly accurate tools that will allow researchers to read and interpret much longer sections of the human genome and clinicians to use sequence information at the point of care.

The plan also calls for new technologies to measure the interaction between the environment, behavior and genes and for routine clinical applications of genomic tools such as newborn genetic screening and other types of diagnostic screening. It also calls for electronic medical records systems that integrate family histories and genomic data to generate personalized diagnoses, treatm
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Contact: Jeannine Mjoseth
mjosethj@mail.nih.gov
301-594-1045
NIH/National Human Genome Research Institute
Source:Eurekalert

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