Big data tool sets the stage for the development of precision medicine


  • Author: Statistics Views (source: Ecole Polytechnique Fédérale de Lausanne)
  • Date: 07 December 2017
  • Copyright: Image appears courtesy of Getty Images

Predicting, diagnosing, and treating complex diseases differ from person to person, and depend on their unique genetic variations integrated within their specific environments. This interaction between the environment and genetic makeup supports the need for personalized medicine but to make this a reality, researchers and doctors first need a deeper understanding of the interaction between genetics, environment, and disease.

thumbnail image: Big data tool sets the stage for the development of precision medicine

To achieve this, hundreds of research groups have worked on a mouse population, called the BXD that has been used as a model to study the genetic basis of phenotypic traits and diseases. Over several decades, thousands of sets of phenotype data from BXD mice have been collected into databases, ranging from coat colour to lifespan. By now, the BXD community has gathered around 300 million phenotype data points from these animals, generating by far the largest coherent "phenome" (a set of all phenotypes expressed in an organism) for any animal experimental cohort.

"These rich and large phenome data remain, however, largely unexploited, as they are difficult to access and the tools to analyze them require advanced skills," says Johan Auwerx, whose lab at EPFL led the study with colleagues from Germany, Netherlands, and the US, as well as EPFL professors Kristina Schoonjans and Stephan Morgenthaler.

The scientists have now addressed the problem by organizing all this knowledge in a cloud-based data warehouse that integrates all 300 million data points collected in the BXD mouse population. The effort to develop an easy-to-use toolkit, which can be used to integrate the different layers of "omics" data from the BXD mouse population, and deposit all the data in a public platform lays the cornerstone of a new era of biology.

The toolkit is already online at
and is expected to significantly facilitate the discovery of gene-phenotype and gene-gene links.

To read the full article, follow the link to Ecole Polytechnique Fédérale de Lausanne. "Big data tool begins new era for biology and personalized medicine." ScienceDaily. ScienceDaily, 29 November 2017.

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