Egyptref: An integrated personal and population-based Egyptian genome reference
North African individuals are not represented in current genetic data sets. To address this issue, we generated an integrated personal and population-based Egyptian genome reference called Egyptref. Towards this end, we performed a human de novo assembly of an Egyptian individual using long PacBio reads (99x genome coverage) and polished it using Illumina short reads (90x). Variants were phased using 10x Genomics linked reads (80x). This personal genome was complemented with whole genome sequencing-based variant data of 109 further Egyptians and mitochondrial haplogroups from mtDNA sequencing of 326 further Egyptians (of which 100 individuals from EGAD00001001372/EGAD00001001380) to obtain a population-based genome. We used Egyptref for assessing the impact of genetic variation, e.g. by integration of blood RNA sequencing data of the assembly individual.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001006034 | Sequel | 1 | |
EGAD00001006035 | HiSeq X Ten | 1 | |
EGAD00001006036 | Illumina NovaSeq 6000 | 1 | |
EGAD00001006037 | HiSeq X Ten | 9 | |
EGAD00001006038 | HiSeq X Ten | 10 | |
EGAD00001006039 | 10 | ||
EGAD00001006040 | Illumina MiSeq | 217 |
Publications | Citations |
---|---|
An integrated personal and population-based Egyptian genome reference.
Nat Commun 11: 2020 4719 |
17 |
Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis.
Front Immunol 13: 2022 960068 |
1 |
Population Genome Programs across the Middle East and North Africa: Successes, Challenges, and Future Directions.
Biomed Hub 8: 2023 60-71 |
0 |
A comprehensive analysis of genetic risk for metabolic syndrome in the Egyptian population via allele frequency investigation and Missense3D predictions.
Sci Rep 13: 2023 20517 |
2 |