Imperial College London
Professor Philippe Froguel

ProfessorPhilippeFroguel

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Chair in Genomic Medicine
 
 
 
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Contact

 

+44 (0)20 7594 6520p.froguel

 
 
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Assistant

 

Mrs Patricia Murphy +44 (0)20 7594 1603

 
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Location

 

E306Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{De:2021:10.1016/j.isci.2021.102893,
author = {De, T and Goncalves, A and Speed, D and Froguel, P and Gaffney, DJ and Johnson, MR and Jarvelin, M-R and Coin, LJM},
doi = {10.1016/j.isci.2021.102893},
journal = {iScience},
title = {Signatures of TSPAN8 variants associated with human metabolic regulation and diseases},
url = {http://dx.doi.org/10.1016/j.isci.2021.102893},
volume = {24},
year = {2021}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Here, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as 1H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report TSPAN8 exon 11 (ENSE00003720745) as a pleiotropic locus associated with metabolomic regulation and show that its biology is associated with several metabolic diseases such as type 2 diabetes (T2D) and cancer. Our results further demonstrate the power of multivariate association models over univariate methods and define metabolomic signatures for variants in TSPAN8.
AU  - De,T
AU  - Goncalves,A
AU  - Speed,D
AU  - Froguel,P
AU  - Gaffney,DJ
AU  - Johnson,MR
AU  - Jarvelin,M-R
AU  - Coin,LJM
DO  - 10.1016/j.isci.2021.102893
PY  - 2021///
SN  - 2589-0042
TI  - Signatures of TSPAN8 variants associated with human metabolic regulation and diseases
T2  - iScience
UR  - http://dx.doi.org/10.1016/j.isci.2021.102893
UR  - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000686897200077&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.cell.com/iscience/fulltext/S2589-0042(21)00861-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2589004221008610%3Fshowall%3Dtrue
UR  - http://hdl.handle.net/10044/1/99454
VL  - 24
ER  -
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