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@article{Aguib:2020:10.1038/s41525-020-00153-w,
author = {Aguib, Y and Allouba, M and Afify, A and Halawa, S and El-Khatib, M and Sous, M and Galal, A and Abdelrahman, E and Shehata, N and El, Sawy A and Elmaghawry, M and Anwer, S and Kamel, O and El, Mozy W and Khedr, H and Kharabish, A and Thabet, N and Theotokis, P and Buchan, R and Govind, R and Whiffin, N and Walsh, R and Aguib, H and ElGuindy, A and O'Regan, D and Cook, S and Barton, P and Ware, J and Yacoub, M},
doi = {10.1038/s41525-020-00153-w},
journal = {npj Genomic Medicine},
pages = {1--8},
title = {The Egyptian collaborative cardiac genomics (ECCO-GEN) Project: defining a healthy volunteer cohort},
url = {http://dx.doi.org/10.1038/s41525-020-00153-w},
volume = {5},
year = {2020}
}

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TY  - JOUR
AB  - The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities towards advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases are not representative of the global human population, making variant interpretation challenging, especially in  underrepresented populations such as the North African population. To address this, the Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project launched a study comprising 1,000 individuals free of cardiovascular disease (CVD). Here, we present the first 391 Egyptian healthy volunteers (EHVols) recruited to establish a pilot phenotyped control cohort. All individuals underwent detailed clinical investigation, including cardiac MRI, and were sequenced using a targeted panel of 174 genes with reported roles in inherited cardiac  conditions (ICC). We identified 1,262 variants in 27 cardiomyopathy genes of which 15.1%  were not captured in current global and regional genetic reference databases (here: gnomAD  and Great Middle Eastern (GME) Variome). The ECCO-GEN project aims at defining the  genetic landscape of an understudied population and providing individual-level genetic and  phenotypic data to support future studies in CVD and population genetics.
AU  - Aguib,Y
AU  - Allouba,M
AU  - Afify,A
AU  - Halawa,S
AU  - El-Khatib,M
AU  - Sous,M
AU  - Galal,A
AU  - Abdelrahman,E
AU  - Shehata,N
AU  - El,Sawy A
AU  - Elmaghawry,M
AU  - Anwer,S
AU  - Kamel,O
AU  - El,Mozy W
AU  - Khedr,H
AU  - Kharabish,A
AU  - Thabet,N
AU  - Theotokis,P
AU  - Buchan,R
AU  - Govind,R
AU  - Whiffin,N
AU  - Walsh,R
AU  - Aguib,H
AU  - ElGuindy,A
AU  - O'Regan,D
AU  - Cook,S
AU  - Barton,P
AU  - Ware,J
AU  - Yacoub,M
DO  - 10.1038/s41525-020-00153-w
EP  - 8
PY  - 2020///
SN  - 2056-7944
SP  - 1
TI  - The Egyptian collaborative cardiac genomics (ECCO-GEN) Project: defining a healthy volunteer cohort
T2  - npj Genomic Medicine
UR  - http://dx.doi.org/10.1038/s41525-020-00153-w
UR  - https://www.nature.com/articles/s41525-020-00153-w
UR  - http://hdl.handle.net/10044/1/82801
VL  - 5
ER  -

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