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October 30, 2012

Digging Mutants Out of Massive Data

Genetics has been on the forefront of big data research out of necessity. A lot of data is required to hold genomes alone, whether they by human, mice, or any organism, not to mention the amount of memory and processing needed to actually compare and analyze those genomes.

Professor Bruce Beutler of the Beutler Laboratory, now located at the University of Texas Southwestern Medical Center in Dallas, has been helping to advance that research with the help of BioMed Central’s database Mutagenetix to make the datasets involved more accessible to Buetler and the rest of the scientific world. His research involves creating random mutations in mouse DNA in an attempt to connect those mutations to certain phenotypes.

“Over a period of eleven years,” Beutler said “we accumulated hundreds of mutations, induced in the mouse genome using the germ line mutagen ENU. Some of these mutations caused striking phenotypes, and broke new ground in immunology, metabolism, neuroscience, and basic cell biology.”

The research is intended to garner a better understanding of how genetic mutations, which can cause anything from disease to evolutionary advancement, are created. That mutation formation process is aptly named mutagenesis. Studying mutagenesis is understandably quite data intensive with the amount of genes within the genomes that have to be mapped and followed.

As such, Mutagenetix, an open database of ENU-generated data (ENU is short for N-ethel-N-nitrosourea) where ENU is the primary driver of phenotype creation in mice.

 "The dataset we have acquired allows us to make strong inferences about how mutagenesis works,” Buetler said. “Our data also provide the basic information needed to model mutagenesis in vitro, to predict just how many genes will be damaged or destroyed in a given population of mice.”

Buetler won the 2011 Nobel Prize in Physiology or Medicine for his work, which has implications for determining how human phenotypes and diseases are created. The Mutagenetix database extends his work and allows scientists to conduct their own experiments based on the information freely available.

Per BioMed Central’s Iain Hrynaszkiewicz, “As a result of our partnership with LabArchives, data which extend the Beutler lab's Nobel Prize-winning discoveries are available for public use, and the data are put into context with an associated peer-reviewed journal publication in BMC Research Notes.”

Hrynaszkiewicz hopes the availability will prompt other scientists to not only use the Nobel Prize-winning data, but also inspire them to publish their results in a similar open environment.

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