The Egyptian collaborative cardiac genomics (ECCO-GEN) Project: defining a healthy volunteer cohort
File(s)s41525-020-00153-w.pdf (1.43 MB)
Published version
Author(s)
Type
Journal Article
Abstract
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.
Date Issued
2020-10-23
Date Acceptance
2020-08-31
Citation
npj Genomic Medicine, 2020, 5 (46), pp.1-8
ISSN
2056-7944
Publisher
Nature Research
Start Page
1
End Page
8
Journal / Book Title
npj Genomic Medicine
Volume
5
Issue
46
Copyright Statement
© The Author(s) 2020. This article is licensed under a Creative Commons
Attribution 4.0 International License, which permits use, sharing,
adaptation, distribution and reproduction in any medium or format, as long as you give
appropriate credit to the original author(s) and the source, provide a link to the Creative
Commons license, and indicate if changes were made. The images or other third party
material in this article are included in the article’s Creative Commons license, unless
indicated otherwise in a credit line to the material. If material is not included in the
article’s Creative Commons license and your intended use is not permitted by statutory
regulation or exceeds the permitted use, you will need to obtain permission directly
from the copyright holder. To view a copy of this license, visit http://creativecommons.
org/licenses/by/4.0/.
Attribution 4.0 International License, which permits use, sharing,
adaptation, distribution and reproduction in any medium or format, as long as you give
appropriate credit to the original author(s) and the source, provide a link to the Creative
Commons license, and indicate if changes were made. The images or other third party
material in this article are included in the article’s Creative Commons license, unless
indicated otherwise in a credit line to the material. If material is not included in the
article’s Creative Commons license and your intended use is not permitted by statutory
regulation or exceeds the permitted use, you will need to obtain permission directly
from the copyright holder. To view a copy of this license, visit http://creativecommons.
org/licenses/by/4.0/.
License URL
Sponsor
Wellcome Trust
Department of Health
Imperial College Healthcare NHS Trust- BRC Funding
Wellcome Trust
Rosetrees Trust
British Heart Foundation
British Heart Foundation
Imperial College Healthcare NHS Trust- BRC Funding
British Heart Foundation
Identifier
https://www.nature.com/articles/s41525-020-00153-w
Grant Number
100134/Z/12/Z
HICF-R6-373
RDB02
107469/Z/15/Z
M735
RE/18/4/34215
RG/19/6/34387
RDC04
NH/17/1/32725
Subjects
Cardiomyopathies
Personalized medicine
Publication Status
Published
Date Publish Online
2020-10-23