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One of the largest genotyping studies ever undertaken is being launched by Brigham and Women’s Hospital in Boston in collaboration with Amgen and the National Heart, Lung, and Blood Institute. Samples from 28,000 originally healthy women will be evaluated for more than 317,000 genetic variations through genome-wide scans. That data will then be analyzed alongside the extensive baseline biological, clinical, and epidemiological data that has already been collected.
“This study is unique based on its sheer size alone,” says Paul Ridker, principal investigator of the Women’s Genome Health Study, as it is being called.
Big studies like this are now possible thanks to bold new technology, “The remarkable part is having these high-throughput genotyping stations,” says Ridker. “We decided it was time for the project because of the technology.”
The researchers will be using an Infinium genetic analysis system from Illumina for genotyping, including HumanHap-DuoBeadChips. The chips are packed with enough information to do a genome wide SNP scan, and are remarkably fast.“We have doubled the speed with which these studies can be completed,” says Carten Rosenow, marketing manager for Illumina’s DNA Analysis Products.
Ridker and his colleagues expect to do the genotyping and analysis within 18 to 24 months. They will be able to examine a wide range of clinical endpoints, including intermediate phenotypes. And because this data set is already well studied, “We already know that we can find novel information,” he says.
The Brigham team and their collaborators are not the only ones starting to look at bigger numbers of samples in their genotyping studies. “I have colleagues around the world who are undertaking at least conceptually similar projects,” Ridker says. Rosenow confirms that more clients are using the Illumina platform to do bigger projects. For example, Erasmus University Medical Centre in Rotterdam, the Netherlands, is using two BeadStations and Infinium HumanHap550 BeadChips to genotype more than 10,000 samples.
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