03.12.2008 - Review articles in prestige journal Nature Genetics

Identification of distribution and functional impact of DNA copy number variation in the rat

The abundance and dynamics of copy number variants (CNVs) in mammalian genomes poses new challenges in the identification of their impact on natural and disease phenotypes. We used computational and experimental methods to catalogue CNVs in the rat and show that they encompass up to 1.5% of the rat genome and share important functional characteristics with human. Furthermore, by exploiting genetic and functional data available for rat recombinant inbred panels we were able to robustly establish the functional relationship of CNVs underlying 16 eQTLs. These characteristics make the rat an excellent model for studying phenotypic effects of structural variation in relation to human complex traits and disease.

V. Guryev, K. Saar, T. Adamovic, M. Verheul, S. A. A. C. van Heesch, S. Cook, M. Pravenec, T. Aitman, H. Jacob, J. D. Shull, N. Hubner, E. Cuppen: Distribution and functional impact of DNA copy number variation in the rat, Nature Genetics 40:538-545, 2008, IF=25.556

Author: pravenec@biomed.cas.cz

22.3.2010 - 25th International Symposium on MicroScale Bioseparations Prague, March 21-25, 2010
Welcome to the 25th International Symposium on MicroScale Bioseparations Prague, March 21-25, 2010

11.6.2009 - Laser microdissection system Leica LMD600
Laser microdissection system Leica LMD600 was installed in the Institute of Physiology.

03.6.2009 - FLIM seminar
June 3, 2009: Seminar on Fluorescence Lifetime Imaging Techniques at the Institute of Physiology

28.5.2009 -  INVITATION
8th EUROPEAN FORUM FOR SCIENCE AND TECHNOLOGY

21.5.2009 - Special Award for Dr. Pavel Flachs
Dr. P. Flachs was awarded with Otto Wichterle Premium

18.2.2009 - The Honorary Medal of J. E. Purkynje for Dr. Jaroslav Kunes
The Honorary Medal of J. E. Purkynje for Dr. Jaroslav Kunes

03.12.2008 - Journal article in prestige journal Nature Genetics
The article in prestige journal Nature Genetics on molecular-genetic basis of severe inherited mitochondrial disease – neonatal encephalo-cardiomyopathy.

03.12.2008 - Review articles in prestige journal Nature Genetics
Identification of renal Cd36 as a genetic determinant of blood pressure and risk for hypertension