Imperial College London

ProfessorMichaelSternberg

Faculty of Natural SciencesDepartment of Life Sciences

Director Centre for Bioinformatics
 
 
 
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Contact

 

+44 (0)20 7594 5212m.sternberg Website

 
 
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Location

 

306Sir Ernst Chain BuildingSouth Kensington Campus

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Summary

 

Publications

Citation

BibTex format

@article{Ofoegbu:2019:10.1016/j.jmb.2019.04.043,
author = {Ofoegbu, T and David, A and Kelley, L and Mezulis, S and Islam, S and Mersmann, S and Strömich, L and Vakser, I and Houlston, R and Sternberg, M},
doi = {10.1016/j.jmb.2019.04.043},
journal = {Journal of Molecular Biology},
title = {PhyreRisk: a dynamic web application to bridge genomics, proteomics and 3D structural data to guide interpretation of human genetic variants},
url = {http://dx.doi.org/10.1016/j.jmb.2019.04.043},
year = {2019}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - PhyreRisk is an open-access, publicly accessible web application for interactively bridging genomic, proteomic and structural data facilitating the mapping of human variants onto protein structures. A major advance over other tools for sequence-structure variant mapping is that PhyreRisk provides information on 20,214 human canonical proteins and an additional 22,271 alternative protein sequences (isoforms). Specifically, PhyreRisk provides structural coverage (partial or complete) for 70% (14,035 of 20,214 canonical proteins) of the human proteome, by storing 18,874 experimental structures and 84,818 pre-built models of canonical proteins and their isoforms generated using our in house Phyre2. PhyreRisk reports 55,732 experimentally, multi-validated protein interactions from IntAct and 24,260 experimental structures of protein complexes.Another major feature of PhyreRisk is that, rather than presenting a limited set of precomputed variant-structure mapping of known genetic variants, it allows the user to explore novel variants using, as input, genomic coordinates formats (Ensembl, VCF, reference SNP ID and HGVS notations) and Human Build GRCh37 and GRCh38. PhyreRisk also supports mapping variants using amino acid coordinates and searching for genes or proteins of interest.PhyreRisk is designed to empower researchers to translate genetic data into protein structural information, thereby providing a more comprehensive appreciation of the functional impact of variants. PhyreRisk is freely available at http://phyrerisk.bc.ic.ac.uk
AU - Ofoegbu,T
AU - David,A
AU - Kelley,L
AU - Mezulis,S
AU - Islam,S
AU - Mersmann,S
AU - Strömich,L
AU - Vakser,I
AU - Houlston,R
AU - Sternberg,M
DO - 10.1016/j.jmb.2019.04.043
PY - 2019///
SN - 0022-2836
TI - PhyreRisk: a dynamic web application to bridge genomics, proteomics and 3D structural data to guide interpretation of human genetic variants
T2 - Journal of Molecular Biology
UR - http://dx.doi.org/10.1016/j.jmb.2019.04.043
UR - http://hdl.handle.net/10044/1/70332
ER -