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New characterization of human genome mutability catalyzes biomedical esearch

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A crucial development for personalized genomic medicine - researchers at the Center for Medical Genomics elucidate intricacies of mutagenesis.

As biomedical researchers continue to make progress toward the realization of personalized genomic medicine, their focus is increasingly tuned to highly mutable regions of the human genome that contribute significantly to genetic variation as well as many inherited disorders.
Accurately characterizing mutability has – to date – posed a serious challenge, but a team of Penn State researchers has recently made a great step forward.

The results of an interdisciplinary study led by Huck Institutes affiliates Kateryna Makova and Francesca Chiaromonte – to be published this week in the journal Proceedings of the National Academy of Sciences – provide a comprehensive geographic characterization of mutability in the human genome.

Other key contributors to the study were Penn State doctoral students Prabhani Kuruppumullage Don, currently a candidate in the Statistics program, and Guruprasad Ananda, a graduate of the Huck Institutes' Bioinformatics and Genomics program who has recently accepted a position with Jackson Laboratory in Bar Harbor, Maine.  Read the full story>>

For additional information please read>>http://www.pnas.org/content/early/2013/08/16/1221792110.full.pdf+html

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