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PROT-STRUCT-DISEASE: Protein structure and human genetic disease: beyond the loss-of-function paradigm
Marsh, Joseph
(Principal Investigator)
Deanery of Molecular, Genetic and Population Health Sciences
Overview
Fingerprint
Research output
(2)
Project Details
Status
Active
Effective start/end date
1/06/21
→
31/05/26
Funding
European Commission:
£1,800,480.00
View all
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Fingerprint
Explore the research topics touched on by this project. These labels are generated based on the underlying awards/grants. Together they form a unique fingerprint.
PAX6
Biochemistry, Genetics and Molecular Biology
100%
Gene Function
Biochemistry, Genetics and Molecular Biology
100%
Genetic Conservation
Biochemistry, Genetics and Molecular Biology
100%
Gene Mutation
Biochemistry, Genetics and Molecular Biology
100%
Protein Structure
Biochemistry, Genetics and Molecular Biology
100%
Missense
Biochemistry, Genetics and Molecular Biology
100%
Random Forest
Biochemistry, Genetics and Molecular Biology
100%
DNA Binding
Biochemistry, Genetics and Molecular Biology
100%
Research output
Research output per year
2024
2024
2024
2
Article
Research output per year
Research output per year
Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes
Fawzy, M.
&
Marsh, J.
,
30 Oct 2024
,
In:
Scientific Reports.
Research output
:
Contribution to journal
›
Article
›
peer-review
Open Access
File
Missense
100%
Gene Function
100%
Gene Mutation
100%
Random Forest
100%
Genetic Conservation
100%
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
McDonnell, A. F.
,
Plech, M.
,
Livesey, B. J.
,
Gerasimavicius, L.
,
Owen, L. J.
,
Hall, H. N.
,
FitzPatrick, D. R.
,
Marsh, J. A.
&
Kudla, G.
,
2 Jul 2024
,
In:
Molecular Systems Biology.
20
,
7
,
p. 825-844
20 p.
Research output
:
Contribution to journal
›
Article
›
peer-review
Open Access
File
DNA Binding
100%
PAX6
100%
Amino Acids
16%
N-Terminus
16%
Mutagenesis
16%