Objective
DNA sequencing has transformed biological research, and is fast becoming the standard-of-care in medicine. Chances are good that every European person born today may have their genome sequenced at some point in their lifetime (it is already happening in Iceland). The currently prevailing sequencing platform, Illumina short-read sequencing, prioritizes content (DNA basepairs) over preserving long-range haplotype context. This decision has paid off so far, but comes at the cost of complicated analyses and often lead to undetected disease-causing chromosome rearrangements. Alternative long-read technologies, however, have yet to deliver the scale and throughput to truly take over from Illumina sequencing. To meet the grand challenge of sequencing humanity and biodiversity, we need both content and context. As part of our ERC StG action, we have invented haplotagging, a technique that restores haplotype context while integrating seamlessly into Illumina sequencing. We have previously published a small-scale pilot study that haplotagging can deliver superior results at a fraction of existing costs. In doing so our team have solved a series of molecular engineering and computational challenges that have stumped far larger parties. However, our prototype dataset are still not large enough to fully allay concerns from potential licensees regarding robust scalability. Thus, we propose to generate a mid-scale, 2000-sample pilot with direct support from Illumina to provide additional benchmark data, guide scale-up efforts and inform decision-making by industry and academic stakeholders. We expect this proposal will help transition haplotagging from a research concept towards the market.
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 ecology ecosystems
- natural sciences biological sciences genetics chromosomes
- natural sciences biological sciences genetics genomes
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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.1.1 - European Research Council (ERC)
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-ERC-POC - HORIZON ERC Proof of Concept Grants
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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) ERC-2022-POC1
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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.
80539 MUNCHEN
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.