ArticleNPJ genomic medicine2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.Genome medicine · 2026Article
- Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults.Lipids in health and disease · 2025Article
- Structural and Functional Characterization of the Aorta in Hypertrophic Obstructive Cardiomyopathy.Circulation. Heart failure · 2025Article
- From Drug Discovery to Drug Approval: A Comprehensive Review of the Pharmacogenomics Status Quo with a Special Focus on Egypt.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.European heart journal · 2023Article
- Genomics in Egypt: Current Status and Future Aspects.Frontiers in genetics · 2022Review
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Authors and funding
29 authors.
Funding
Abstract
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.
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Registered trials
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