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BC's Marth Bioinformatics Lab and 1,000 Genomes Project Report on Cancer Genomics

CHESTNUT HILL, Mass. (October 2013) – Boston College biologist Gabor Marth and his bioinformatics lab have played an integral role in the massive data analysis required by the five-year-old 1000 Genomes Project, which is producing the most detailed map yet of human genetic variation.

Earlier this month, Marth and his data-crunching colleagues released the project’s latest report, an analysis in the journal Science of the discovery of regions of the human genome where mutations occur that could be at the root of various forms of cancer.

Further, the team developed a computer program capable of sifting through millions of pieces data to identify approximately 100 regions of the genome that are likely drivers of the disease.

Marth, a member of the Functional Information Group, said making connections between the genome and human health is a very satisfying aspect of the project.

“This is very exciting,” said Marth, an associate professor of biology at BC. “We never know what to expect. To have an analysis like this come out, with so many components, yet so very accurate, is a significant accomplishment.”

Marth, whose lab focused on creating accurate computational approaches to analyze genetic mutations that are difficult to find, credited doctoral student Erik Garrison, a co-author on the paper, with developing a rigorous analytic approach.

This week, Marth and other members of the massive 1000 Genomes Project team meet in Boston, where many are also attending the American Society of Human Genetics annual meeting at the Boston Convention and Exhibition Center. Marth is leading an invited session at the conference on Oct. 23.