Project description
Unlocking structural insights of the human genome
While modern genomic sequencing technologies are revolutionising medical research, their practical application is currently limited by a lack of effective data analysis techniques. Supported by the Marie Skłodowska-Curie Actions programme, the BENEFITTING project aims to address these limitations by introducing advanced haplotype-based statistical methods that will unlock biological insights from complex genomic data. It will develop integrated approaches for analysing low-coverage and long-read sequencing data, with a particular focus on probabilistic haplotype-based methods for structural variant genotyping, imputation and analysis in large-scale population studies.
Objective
The rapid emergence of high-throughput genomic technologies—such as low-coverage sequencing (LCS), ancient DNA (aDNA), and long-read sequencing (LRS)—offers unprecedented opportunities to explore human evolutionary history and advance medical genetics. However, the full potential of these data remains underexploited due to analytical and methodological limitations: for example, low coverage aDNA (<0.5x) is typically excluded ancestral recombination graph (ARG) analyses, while low structural variant (SV) genotyping accuracy and the lack of reliable imputation panels limit population-scale association studies.
This project proposes the development of two innovative haplotype-based statistical methods to overcome these barriers and unlock novel biological insights. First, I will establish a unified framework that integrates ARG construction with genotype imputation, enabling robust large-scale genealogical and demographic analyses of both modern and ancient low-coverage genomes. Second, I will develop a probabilistic haplotype-based approach for structural variant (SV) genotyping and imputation with long-read sequencing data, applying it to large population cohorts. These methods will be validated on cutting-edge resources, including the UK Biobank and the Allen Ancient DNA Resource, and disseminated through open-source software.
By bridging methodological gaps in aDNA and SV analyses, this project will deliver tools for demography inference using ARGs, SV-informed trait mapping, and the integration of diverse genomic data in population and medical genomics. The first application of the tools will have profound impacts. The unlocked high-resolution human history will contribute to public discourse on the definition and biomedical use of genetic ancestry. Discoveries of disease-associated SVs and underlying biological mechanisms will inform drug development, personalized treatment, and supporting industrial innovation.
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 computer and information sciences software
- humanities history and archaeology history
- 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.
OX1 2JD Oxford
United Kingdom
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.