Hopkins is first US institution to obtain powerful genotyping system

Ahead of other U.S. academic institutions, The Johns Hopkins University School of Medicine and its McKusick-Nathans Institute of Genetic Medicine have pooled resources to obtain a commercial system capable of processing hundreds of DNA samples and determining up to 600,000 genotypes a day.

The $1.5 million system, purchased from Illumina Inc. (San Diego, Calif.), has been installed and tested and should be fully operational by September. Part of the shared genetics resources at Johns Hopkins, the system will use both premade panels of known genetic sequences and research-specific panels of genes, designed in-house, to identify genetic changes in DNA samples.

"In addition to offering a lower cost to researchers, our flexibility should set us apart from what is available from companies," says Alan Scott, Ph.D., director of Johns Hopkins' Genetics Resources Core Facility and one of the forces behind getting the new genotyping system. "Quite a few research programs here require genotyping hundreds to thousands of tissue samples, and other researchers may have been reluctant to take on such tasks because the work couldn't be done nearby. Now we'll be able to offer these services right here at Hopkins."

The new system, called "BeadLab" because of the technology it uses, can examine up to 96 different samples and determine more than 100,000 genotypes in a single experiment. A genotype is a description of an individual's sequence of genetic building blocks (A, G, T and C) and can be compared to others' to help scientists identify genes involved in disease.

Most of the human genome's 3 billion building blocks occur in the same order in all humans. But everyone also has occasional substitution of one genetic building block for another. If a particular spot has a common variation (i.e., some people have an "A" instead of the usual "C"), that position is said to have a single nucle

Contact: Joanna Downer
Johns Hopkins Medical Institutions

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