Statistical tools identify clusters of gene variants linked to disease

Biostatisticians from the University of Massachusetts-Amherst say gene sequencing has allowed them to identify new information about genes related to conditions such as heart disease.

The researchers applied sophisticated statistical tools to large public databases to ferret out clusters of gene variations in people with specific conditions, an announcement explains. The work is published at PLOS One.

"It's like listening to an orchestra," explains lead author Andrea Foulkes in the announcement. "If there is one drum, we all hear it, and we hear the cello section even if each instrument is playing quietly, because they are all playing together. Current statistical methods can hear the drum, but not the cellos, no matter how many are playing, because no single cello is as loud as the drum. Our method can do this."

The method is straightforward, using freely available computer software and can be applied broadly to advance genetic knowledge of many diseases, according to Foulkes, who directs the university's Institute for Computational Biology, Biostatistics and Bioinformatics.

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The technique that Foulkes developed with cardiologist Dr. Muredach Reilly at the University of Pennsylvania and others can be applied to existing genetic studies of blood cholesterol levels and already suggests a dozen new genes to explore related to low- density lipoprotein cholesterol as a heart disease risk factor.

Genome sequencing is leading to exciting new discoveries about disease and more effective treatments for cancer and other ailments. Advances in sequencing and the declining cost for more powerful computing capabilities were among M.D. Anderson Cancer Center's aggressive push against eight forms of cancer.

The U.K. is mapping the DNA of up to 100,000 citizens, going beyond looking at a single gene to gain a better understanding of disease.  Meanwhile, the European Union recently announced it will focus on the genetic components of rare diseases with a 38 million Euros (more than $50 million) investment in global research projects

To learn more:
- find the announcement
- here's the abstract

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