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Content archived on 2024-06-18

Evolutionary and functional analysis of polymorphic inversions in the human genome

Objective

The last years have seen an extraordinary explosion of studies characterizing genome variation at different levels, and have opened new opportunities in deciphering the genetic basis of phenotypic characteristics and the evolutionary forces involved. One of the major breakthroughs has been the discovery of an unprecedented degree of structural variation in the human genome, including deletions, duplications and inversions. However, the main challenge is to understand the biological significance of these genomic changes. In particular, for many years inversions have been the paradigm of evolutionary biology. Thus, the identification of the whole set of human inversions gives us a unique opportunity to investigate the functional and evolutionary consequences of this type of changes at a large scale. The specific objectives of the project are: (1) Catalogue the precise location of all common polymorphic inversions in the human genome; (2) Determine the population distribution and the evolutionary history of these inversions; (3) Investigate the functional consequences and the effects on gene expression of human inversions; and (4) Assess the effect of inversions on nucleotide variation patterns and the role of natural selection in their maintenance. This project will follow a multidisciplinary approach that combines experimental and bioinformatic analyses and will benefit from the great amount of information on the human genome already available and that will be generated in the next months. The proposed research therefore represents a very appropriate and timely contribution to the study of human structural variation and its role in phenotypic variation and evolution. Furthermore, it will provide additional insights on genome function, gene-expression regulation mechanisms, and the association of genetic changes and particular traits, and promises to stir novel hypothesis for future studies.

Fields of science (EuroSciVoc)

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Topic(s)

Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.

Call for proposal

Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.

ERC-2009-StG
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Funding Scheme

Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.

ERC-SG - ERC Starting Grant

Host institution

UNIVERSITAT AUTONOMA DE BARCELONA
EU contribution
€ 1 475 377,00
Address
EDIF A CAMPUS DE LA UAB BELLATERRA CERDANYOLA V
08193 Cerdanyola Del Valles
Spain

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Region
Este Cataluña Barcelona
Activity type
Higher or Secondary Education Establishments
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Total cost

The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.

No data

Beneficiaries (1)

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