European researchers present largest-ever mapping of functional genetic variation


In collaboration with several European research institutes, researchers at Uppsala University are presenting today a map of genetic causes of differences among people. The study, published in the scientific journals Nature and Nature Biotechnology, describe the largest-ever amount of data linking variations in human genomes (DNA) with gene activity at the RNA level.

To understand how every individual’s unique genome affects the person’s susceptibility to diseases is one of the greatest scientific challenges today. Geneticists are studying how various types of gene profiles lead to activation or inactivation of genes in various individuals, which might then increase the risk of disease.

More than fifty researchers from nine European research institutes lie behind the studies presented today. In these studies scientists have measured gene activity (gene expression) by sequencing RNA in cells from 462 individuals from different European countries RNA. The complete genome sequence from these individuals has already been published as part of the so-called “1000 Genomes Project”.

The study now being published enables a functional interpretation of this important catalogue of genetic variation in a large number of people. The study coordinator, Tuuli Lappalainen from the University of Geneva, states that the researchers were surprised at how extensive the genetic variation that regulates the activity of most of our genes seems to be. She emphasizes that instead of investigating individual genes it is important to gain an understanding of the general principles for how the human genome functions.

Knowledge of what genetic variants are responsible for differences in gene activity among individuals can provide valuable clues for diagnosis, for predicting clinical outcomes, and for treatment of various diseases. Understanding the cellular consequences of genetic variation that increase the risk of disease helps scientists to understand the molecular mechanisms behind our diseases. This is of the utmost importance for developing future treatment methods-

All data from the study are freely accessible via the European Archive for Functional Genomic Data at the European Bioinformatics Institute (EMBL-EBI). Open access to these data and results make it possible for all researchers to analyse them in new ways.

The two articles published today are based on work in the EU Geuvadis Project (Genetic European Variation in Health and Disease).  The RNA samples were sequenced at, among other places, the SNP&SEQ technology platform in Uppsala, part of the ScilLifeLab. Bioinformaticians from Uppsala University participated in the international data analysis group. The group in Uppsala played an especially important role in the assessment of the data quality, which is presented in more detail in the article in Nature Biotechnology.

–  Our study shows that it is possible to attain the same results in several different laboratories, provided you use standardised laboratory methods. This demonstrates that the new, so-called ‘next generation’ of sequencing technology is highly suitable for major national or international collaborative projects,” says Ann-Christine Syvänen, professor of molecular medicine at Uppsala University, who directed the part of the study performed in Uppsala.

References: Nature (DOI: 10.1038/nature12531) och Nature Biotechnology (DOI: 10.1038/nbt.2702)

For more information, please contact Ann-Christine Syvänen, phone: +46 18-611 29 59, +46 70 167 9445 e-mail: or Jonas Carlsson, phone +46 18- 6114924, e-mail:

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