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Genealogical and statistical methods for large-scale genomic analysis

Project description

Scalable genealogical and statistical methods for genomic analysis

Large health and genetics studies now contain genomic, health and environmental data from millions of individuals, creating major computational and statistical challenges. The ERC-funded ARGgen project will develop scalable methods to analyse these datasets more efficiently and accurately. It will reconstruct large-scale genealogical graphs to represent evolutionary relationships among modern and ancient genomes and use them to improve genomic analyses, model genetic ancestry and study human evolutionary history. The project will also develop machine-learning methods to extract information about biological function from genomic data, analyse multiple traits and ancestries, and support cross-biobank analyses. These methods will be released as high-quality open-source software, enabling researchers to analyse increasingly large and diverse genomic datasets.

Objective

Biobank datasets, containing genomic, environmental, and health data for millions of individuals, have provided insights into disease susceptibility, biological mechanisms, and human evolution, facilitating applications such as drug development and genetic risk prediction. However, these datasets present significant challenges: processing their large volumes is computationally very demanding, and modeling the heterogeneity they contain poses substantial statistical obstacles. These issues risk leaving genomic datasets underutilized or amplifying existing biases, such as those linked to genetic ancestry.

To address these challenges, this proposal will develop scalable statistical methods to reduce computational costs, improve the modeling of genetic ancestry, and increase accuracy and statistical power across several genomic analyses. We will focus on three specific aims. First, we will develop scalable methods to reconstruct large-scale genome-wide genealogical graphs, capturing evolutionary relation-ships and enabling applications such as simulation, phasing, imputation, and data sharing. Second, we will extend this framework to analyze both ancient and modern genomes, using genealogical graphs to define new ancestry descriptors and study human evolutionary history at fine resolution. Finally, we will create Bayesian machine learning approaches to improve the detection of trait- and disease-associated variants, model multiple traits and ancestries, learn biological function from raw genomic data, and enable distributed cross-biobank analyses. We will implement these models as high-quality, freely available open-source software.

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Topic(s)

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HORIZON-ERC - HORIZON ERC Grants

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Call for proposal

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

(opens in new window) ERC-2025-COG

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Host institution

THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD
Net EU contribution

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.

€ 1 999 980,00
Address
WELLINGTON SQUARE UNIVERSITY OFFICES
OX1 2JD Oxford
United Kingdom

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Region
South East (England) Berkshire, Buckinghamshire and Oxfordshire Oxfordshire
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.

€ 1 999 980,00

Beneficiaries (1)