Project description: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 1000 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.
Project description:Aim: To clarify the expression profile of transfer RNA-derived small RNAs (tsRNAs) and disclose the putative role in the pathogenesis of pathological cardiac hypertrophy (PCH). Materials & methods: Small RNA sequencing was conducted in four pairs plasma from PCH patients and healthy volunteers.
2023-12-09 | GSE220617 | GEO
Project description:All HipSci data for healthy volunteers
| PRJEB11753 | ENA
Project description:HipSci whole exome sequencing data for healthy volunteers
Project description:miRNAs were extracted from plasma samples of healthy volunteers, patients with Barrett’s esophagus and patients with esophageal adenocarcinoma. We used the Serum / Plasma Focus miRNA PCR panel (Exiqon, Denmark) to quantitate miRNA presence in the different patient groups.
Project description:Targeted proteomics data was acquired from plasma extracellular vesicles; two pooled colorectal cancer group and two pooled healthy volunteers group. Non-targeted protemics data (selected reaction monitoring: SRM) was acquired from plasma extracellular vesicles; 209 colorectal cancer patients and 109 healthy volunteers.
Project description:Acute coronary syndrome (ACS) is presented as a group of symptoms resulting from acute ischemia of the myocardium due to rupture of a coronary arterial plaque. It comprises different classes; unstable angina, STEMI and NSTEMI. The current cornerstones of ACS diagnosis are ECG, CK-MB and cardiac troponins however there are several limitations leading to evading early diagnosis and poor prognosis. This highlights the need for more sensitive and specific biomarkers for a better outcome. In this study,an initial screening set is RNA sequenced for retrieval of differentially expressed genes and miRNAs. Then, a microRNA-long non-coding RNA multi biomarker panel is retrieved via in silico data analysis related to PINK1/Parkin-induced mitophagy. This is followed by clinical validation of their expression in serum of ACS patients in comparison to non-cardiac chest pain patients and healthy volunteers via qRT-PCR.
2023-01-01 | GSE202937 | GEO
Project description:HipSci genotyping array data for healthy volunteers
| PRJEB11750 | ENA
Project description:All HipSci Genotyping data for healthy volunteers
| PRJEB11752 | ENA
Project description:HipSci imputed whole exome sequencing data for healthy volunteers