Objective
Advances in DNA sequencing technology, enabling routine genetic variation studies, have uncovered that genomic structural variants (SVs; e.g. deletions and inversions) account for most varying bases in human genomes. SVs are also disproportionally associated with disease phenotypes when compared to single nucleotide variants by number. Studies are increasingly implicating genetic polymorphisms with diseases – yet why some humans develop diseases while others do not, and why disease incidences often increase with age, is largely unclear.
Intriguingly, recent studies showed that human genetic variation extends markedly beyond heritable variants. Soon after fertilization, mutations naturally accumulate in healthy tissues resulting in somatic genetic mosaicism (SGM), a highly understudied form of variation. Among SGM classes, ‘SV mosaicisms’ likely account for most varying bases, are increased at age, are seen in the context of clonal cell expansion, and are associated with diseases of the elderly including type 2 diabetes and cancer. This indicates that to understand the basis of particular diseases we may first need to comprehend how naturally formed somatic SVs impact human cells.
Here we aim to uncover the extent and impact of SV mosaicism. We aim to pursue single cell analyses, which offer the most direct way to detect somatic SVs in individual cells. Performing SV analysis in single cells at scale, however, is not a mainstream approach: current methods identify copy-number variants (CNVs), but miss key copy-neutral SV classes (e.g. inversions) likely to be highly relevant. We aim to develop new experimental and computational tools to construct a single cell catalog of a wide variety of relevant SV classes in different cell types (i.e. the blood compartment and skin) and ages. Using this catalog, we aim to study the functional impact of SV mosaicism on the cellular level, as a foundation for elucidating roles of somatic SVs in age-related phenotypes and diseases.
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.
- medical and health sciences clinical medicine endocrinology diabetes
- natural sciences biological sciences genetics mutation
- medical and health sciences clinical medicine oncology
- natural sciences biological sciences genetics nucleotides
- natural sciences biological sciences genetics genomes
You need to log in or register to use this function
We are sorry... an unexpected error occurred during execution.
You need to be authenticated. Your session might have expired.
Thank you for your feedback. You will soon receive an email to confirm the submission. If you have selected to be notified about the reporting status, you will also be contacted when the reporting status will change.
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.
-
H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC)
MAIN PROGRAMME
See all projects funded under this programme
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.
ERC-COG - Consolidator Grant
See all projects funded under this funding scheme
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) ERC-2017-COG
See all projects funded under this callHost institution
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.
69117 Heidelberg
Germany
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.