10/06/2015 - 12:00 - Auditori PRBB

Polymorphic inversions in the arquitecture of human genome and complex diseases

Scientific sessions, CRG Group Leader Seminars

Juan R. González

Bioinformatics Research Group in Epidemiology, Center for Research in Environmental Epidemiology (CREAL)

Brief biography

Juan R Gonzalez is an Associate Reseach Professor at CREAL where he coordinates the Bioinformatics Group in Genetic Epidemiology (BRGE - He is also leading GENOmet, a Spanish network for developing bioinformatic tools and statistical methos in genomics. BRGE work focuses on developing new statistical methods and implementing tools for analyzing different 'omic' data including genomic (CNVs, inversions, mosaicisms), and transcriptomic (RNA-seq and alternative splicing) among others. Juan R Gonzalez also holds an Adjunt Professor apointment at the Department of Mathematics at Autonomous University of Barcelona where he provides post-graduate lectures in bioinformatics. He began by doing research in Cancer Epidemilogy at the Catalan Institute of Oncology. After getting his PhD in Biostatistics supervised by Prof Edsel Peña from the University of South Carolina Columbia, he spent 2 years as a post-doc at Xavier Estivill's lab at the CRG. Then he moved to CREAL to lead the bioinformatic's area.


Despite a major genetic contribution to the etiology based on epidemiological data, there is still a significant proportion of missing heritability in most complex diseases. In order to study still unexplored genetic variants, we have recently developed bioinformatic tools for both detecting and genotyping chromosomal inversions using SNP array data. By using this tool we have detected and validated a list of 60 inversions that includes some of the already known and well characterized inversions. By using large population-based cohorts, we have shown that these inversions affect gene expression, methylation as well as some phenotypes. In this talk we will provide a global overview of those findings that have been obtained by our group during the last years.