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Details of Grant 

EPSRC Reference: EP/M01715X/1
Title: Novel Methodology for predicting the Functional Effects of Genetic Variation
Principal Investigator: Campbell, Dr C
Other Investigators:
Gaunt, Professor TR
Researcher Co-Investigators:
Project Partners:
Department: Engineering Mathematics and Technology
Organisation: University of Bristol
Scheme: Standard Research
Starts: 01 June 2015 Ends: 31 May 2018 Value (£): 271,072
EPSRC Research Topic Classifications:
Fundamentals of Computing
EPSRC Industrial Sector Classifications:
Healthcare
Related Grants:
Panel History:
Panel DatePanel NameOutcome
02 Dec 2014 EPSRC ICT Prioritisation Panel - Dec 2014 Deferred
27 Jan 2015 EPSRC ICT Prioritisation Panel - Jan 2015 Announced
Summary on Grant Application Form
Rapid developments in next-generation sequencing technologies

has lead to a rapid increase in identified genetic variants,

which may be implicated in disease. Laboratory-based experiments

to investigate functional consequences of these genetic variants

is a costly and time-consuming process. The core application focus of the project

is to construct algorithmically-based methods for predicting

the functional consequence of genetic variants, a problem where we have already

achieved some state-of-the-art results in certain contexts. 50% of the project period will be

given over to the design of improved algorithms specific to this application.

The other 50% of the project period will be given over to achieving

state-of-the-art performance with these new methods, and existing methods,

in application to the stated goal of predicting which variants, insertions

and deletion events are associated with human disease. The pathways to impact

is briefly described in the Case and more fully detailed in the Pathways to Impact

statement.
Key Findings
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Potential use in non-academic contexts
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Impacts
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Summary
Date Materialised
Sectors submitted by the Researcher
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Project URL:  
Further Information:  
Organisation Website: http://www.bris.ac.uk