Objective
A substantial proportion of the human genome consists of repetitive content, until recently discarded as “junk DNA”. These include tandem repeats (TRs)—stretches of short sequence motifs repeated consecutively—and mobile elements (MEs), or interspersed repeats capable of replicating and inserting themselves into new genomic locations. Despite their abundance and likely major contribution to disease, repeat variants have been largely neglected in genetic association studies, primarily due to the limited resolution of standard discovery and genotyping methods.
The aim of my MSCA Postdoctoral Fellowship project is to systematically detect and characterise the effects of repeat variants on human traits and diseases. To make TRs and MEs accessible in large population biobanks with mainly microarray data available, I will develop an advanced haplotype-informed framework for repeat variant discovery and imputation, applying it to FinnGen and Estonian Biobank—two cohorts distinguished by exceptionally high population representation and dense familial relatedness in Europe. In the Estonian Biobank specifically, I will leverage long-read sequencing data to construct what will be, to my knowledge, the most comprehensive reference panel of repeat variants to date. The imputed variants will then undergo association testing with rich registry-linked phenotypic data.
Given the overall scarcity of repeat-focused studies at biobank-scale, this project is well positioned to uncover a substantial number of previously unreported phenotype associations. By filling this gap, the project has the potential to deliver novel biological insights into how repeat variants influence human traits and diseases, leading to improved risk prediction and population health.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences biological sciences genetics DNA
- natural sciences biological sciences genetics genomes
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Keywords
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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HORIZON.1.2 - Marie Skłodowska-Curie Actions (MSCA)
MAIN PROGRAMME
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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.
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.
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.
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.
HORIZON-TMA-MSCA-PF-EF - HORIZON TMA MSCA Postdoctoral Fellowships - European Fellowships
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Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
(opens in new window) HORIZON-MSCA-2025-PF
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Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.
00014 HELSINGIN YLIOPISTO
Finland
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.