Related Experiment Video
Updated: Feb 10, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Whole genome sequencing and bioinformatics analysis of two Egyptian genomes
Mahmoud ElHefnawi1, Sungwon Jeon2, Youngjune Bhak2
1Biomedical Informatics and Chemo-Informatics Group, Centre of Excellence for Advanced Sciences (CEAS), and Informatics and Systems Department, National Research Centre, Cairo 12622, Egypt.
Abstract:
We report two Egyptian male genomes (EGP1 and EGP2) sequenced at ~ 30× sequencing depths. EGP1 had 4.7 million variants, where 198,877 were novel variants while EGP2 had 209,109 novel variants out of 4.8 million variants. The mitochondrial haplogroup of the two individuals were identified to be H7b1 and L2a1c, respectively. We also identified the Y haplogroup of EGP1 (R1b) and EGP2 (J1a2a1a2 > P58 > FGC11). EGP1 had a mutation in the NADH gene of the mitochondrial genome ND4 (m.11778 G > A) that causes Leber's hereditary optic neuropathy. Some SNPs shared by the two genomes were associated with an increased level of cholesterol and triglycerides, probably related with Egyptians obesity. Comparison of these genomes with African and Western-Asian genomes can provide insights on Egyptian ancestry and genetic history. This resource can be used to further understand genomic diversity and functional classification of variants as well as human migration and evolution across Africa and Western-Asia.
Related Concept Videos
Genomics
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Genome Size and the Evolution of New Genes
Genome Size and the Evolution of New Genes
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
Genomic DNA in Prokaryotes
Genomic Diversity in Bacteria
Although bacterial genomes are much...

