The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Autor:	Aguib Y; Aswan Heart Centre, Aswan, Egypt.; National Heart and Lung Institute, Imperial College London, London, UK., Allouba M; Aswan Heart Centre, Aswan, Egypt.; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK., Afify A; Aswan Heart Centre, Aswan, Egypt., Halawa S; Aswan Heart Centre, Aswan, Egypt.; Biotechnology Graduate Program, American University in Cairo, New Cairo, Egypt., El-Khatib M; Aswan Heart Centre, Aswan, Egypt., Sous M; Aswan Heart Centre, Aswan, Egypt., Galal A; Aswan Heart Centre, Aswan, Egypt., Abdelrahman E; Aswan Heart Centre, Aswan, Egypt., Shehata N; Aswan Heart Centre, Aswan, Egypt., El Sawy A; Aswan Heart Centre, Aswan, Egypt., Elmaghawry M; Aswan Heart Centre, Aswan, Egypt., Anwer S; Aswan Heart Centre, Aswan, Egypt.; University Heart Center Zürich, Zürich, Switzerland., Kamel O; Aswan Heart Centre, Aswan, Egypt., El Mozy W; Aswan Heart Centre, Aswan, Egypt.; Radiology department, Kasr Alainy School of Medicine, Cairo University, Cairo, Egypt., Khedr H; Aswan Heart Centre, Aswan, Egypt., Kharabish A; Aswan Heart Centre, Aswan, Egypt., Thabet N; Aswan Heart Centre, Aswan, Egypt., Theotokis PI; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK., Buchan R; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK., Govind R; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK., Whiffin N; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; MRC London Institute of Medical Sciences, Imperial College London, London, UK., Walsh R; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Amsterdam, Netherlands., Aguib H; Aswan Heart Centre, Aswan, Egypt., Elguindy A; Aswan Heart Centre, Aswan, Egypt.; National Heart and Lung Institute, Imperial College London, London, UK., O'Regan DP; MRC London Institute of Medical Sciences, Imperial College London, London, UK., Cook SA; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; National Heart Centre Singapore, Singapore, Singapore.; Duke-National University of Singapore, Singapore, Singapore., Barton PJ; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK., Ware JS; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; MRC London Institute of Medical Sciences, Imperial College London, London, UK., Yacoub M; Aswan Heart Centre, Aswan, Egypt.; National Heart and Lung Institute, Imperial College London, London, UK.; Harefield Heart Science Centre, Harefield, Middlesex UK.
Jazyk:	angličtina
Zdroj:	NPJ genomic medicine [NPJ Genom Med] 2020 Oct 23; Vol. 5, pp. 46. Date of Electronic Publication: 2020 Oct 23 (Print Publication: 2020).
DOI:	10.1038/s41525-020-00153-w
Abstrakt:	The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward 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 1000 individuals free of cardiovascular disease (CVD). Here, we present the first 391 Egyptian healthy volunteers recruited to establish a pilot phenotyped control cohort. All individuals underwent detailed clinical investigation, including cardiac magnetic resonance imaging (MRI), and were sequenced using a targeted panel of 174 genes with reported roles in inherited cardiac conditions. We identified 1262 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 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. Competing Interests: Competing interestsThe authors declare no competing interests. (© The Author(s) 2020.)
Databáze:	MEDLINE
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