NimbleGen and 454 technologies, which allow characterization of entire human exome, will be used.

Roche Applied Science and SeqWright are collaborating with researchers at the University of Miami Miller School of Medicine to identify genetic factors implicated in dilated cardiomyopathy. The research is leveraging technologies from the Roche companies, NimbleGen and 454 Life Sciences (

SeqWright has used the NimbleGen Sequence Capture Human Exome Arrays to enrich over 180,000 exons from patients with dilated cardiomyopathy. These exons are being sequenced on the Genome Sequencer FLX system to detect genetic variants including SNPs, insertions, and deletions. 

“Sequencing the entire coding portion of the human genome has not been feasible until recent advancements in next-generation genome tools,” comments Fei Lu, M.D., SeqWright CEO. “By being able to efficiently characterize the entire human exome, researchers can accelerate their research by taking the candidate gene approach to a completely new level.”
Nadine Norton Ph.D., research assistant professor at the Miller School of Medicine, adds, “We know that familial dilated cardiomyopathy can be explained by mutations in more than 20 autosomal and two X-lined genes, yet mutations in these genes account for only one-third of the cause. By using an experimental strategy that employs the sequencing of all coding regions within the human genome, we hope to identify other mutations in other genes that cause this terrible disease.”

The familial dilated cardiomyopathy research project was founded at Oregon Health & Science University by Ray Hershberger, M.D., in 1993 and moved to the University of Miami’s Miller School of Medicine in 2007.

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