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INVFEST. Functional and evolutionary analysis of polymorphic inversions in the human genome

Research Leader:
Dr. Mario Cáceres Aguilar
Institut de Biotecnologia i de Biomedicina (IBB)

Project description

The last years have seen an extraordinary explosion of studies characterizing genome variation at different levels, and have uncovered an unprecedented degree of structural variation in the human genome. However, the main challenge now is to understand the biological significance of these genomic changes. The identification of the whole set of human inversions gives us a unique opportunity to investigate their functional and evolutionary consequences at a large scale. In particular, the specific objectives are to catalogue the precise location of polymorphic inversions in the human genome, determine their population distribution and evolutionary history, study their functional consequences and their effects on gene expression, and assess the effect of inversions on nucleotide variation patterns and the role of natural selection in their maintenance. This research benefits from the great amount of information on the human genome that is being accumulated, and represents a timely contribution to the study of human structural variation and its role in phenotypic variation and evolution.

Contact person Dr. Mario Cáceres Aguilar

Web link www.grupsderecerca.uab.cat