ArticleNature communications2020
An integrated personal and population-based Egyptian genome reference.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 42 citations in OpenAlex.
- Circulating neuronal proteins are elevated in severe autism and associated with patient-specific neuronal dysfunction and behavioral deficits.Translational psychiatry · 2026Article
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- The Contribution of Ethnicity to the Association ofBrain sciences · 2026Review
- Association ofBiomedicines · 2025Article
- Egypt Genome: Towards an African new genomic era.Journal of advanced research · 2025Review
- Moroccan genome project: genomic insight into a North African population.Communications biology · 2025Article
- The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.NPJ Parkinson's disease · 2024Article
- From Drug Discovery to Drug Approval: A Comprehensive Review of the Pharmacogenomics Status Quo with a Special Focus on Egypt.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Targeted phasing of 2-200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method.Scientific reports · 2024Article
- Article
- North and East African mitochondrial genetic variation needs further characterization towards precision medicine.Journal of advanced research · 2023Article
- A comprehensive analysis of genetic risk for metabolic syndrome in the Egyptian population via allele frequency investigation and Missense3D predictions.Scientific reports · 2023Article
- Association between CYP3A4/CYP3A5 genetic polymorphisms and treatment outcomes of atorvastatin worldwide: is there enough research on the Egyptian population?European journal of medical research · 2023Review
- Evolutionary Genetics and Admixture in African Populations.Genome biology and evolution · 2023Review
- Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.Neurogenetics · 2023Article
- The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.International journal of molecular sciences · 2022Article
- Association of rs1544410 and rs7975232 Polymorphisms and Serum Vitamin D Levels with Psoriasis Susceptibility and Severity: A Case-Control Study in Egyptian Patients.Clinical, cosmetic and investigational dermatology · 2022Article
- Genomics in Egypt: Current Status and Future Aspects.Frontiers in genetics · 2022Review
- Genome-wide association study for systemic lupus erythematosus in an egyptian population.Frontiers in genetics · 2022Article
- Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis.Frontiers in immunology · 2022Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A small number of de novo assembled human genomes have been reported to date, and few have been complemented with population-based genetic variation, which is particularly important for North Africa, a region underrepresented in current genome-wide references. Here, we combine long- and short-read whole-genome sequencing data with recent assembly approaches into a de novo assembly of an Egyptian genome. The assembly demonstrates well-balanced quality metrics and is complemented with variant phasing via linked reads into haploblocks, which we associate with gene expression changes in blood. To construct an Egyptian genome reference, we identify genome-wide genetic variation within a cohort of 110 Egyptian individuals. We show that differences in allele frequencies and linkage disequilibrium between Egyptians and Europeans may compromise the transferability of European ancestry-based genetic disease risk and polygenic scores, substantiating the need for multi-ethnic genome references. Thus, the Egyptian genome reference will be a valuable resource for precision medicine.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.