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UNM Scientist Gets $1.4M for New Reference Genome Methods for Clinical Care

NEW YORK (GenomeWeb News) – A University of New Mexico Cancer Center investigator plans to use $1.4 million in new funding from the National Institutes of Health to develop new genome sequencing technologies for studying the reference human genome, and which could be used in clinical care, UNM said yesterday.

Jeremy Edwards, a professor at UNM's Department of Molecular Genetics and Microbiology, plans to use these new tools along with Life Technologies' Ion Proton Genome Sequencer at the UNM Cancer Center to study the use of sequencing to develop more personalized cancer treatments.

Edwards said in a statement that the technologies his team is working on could make it possible to find out which chromosome pairs genetic variants are on, enabling him to study interactions between genes that are far apart in a genome sequence but which may interact with each other due to their physical proximity.

"The genome inside the cell gets folded and twisted, so there could be long-range interaction" between genes that are far away from one another in a sequence, he said.

In another subset of his studies, Edwards plans to develop a new version of the reference human genome sequence that could be used to help better explain complex diseases. "There are certain regions that have never been sequenced, most likely because they are identical to the genome in another place," he explained.

His project also has a clinical component that will apply these tools in patient care, with the aim of assembling a new reference genome for each patient. "Assembling a de novo genome for each and every individual will identify a lot of complex differences you can't uncover by just looking for differences with the reference," he said.

Edwards said that such a de novo assembly could be "much more accurate in finding structural changes, rearrangements in the genome, and changes where chunks are deleted, inserted, and flipped around. It will make the genetic information people get now much more valuable and informative."

To pursue the clinical component of his studies, Edwards and his research team plan to develop a process that would protect patient privacy.

Although Edwards' group is using Ion Proton sequencing in this study, he said the methods they are using "can be applied to any sequencing machine out there."

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