Whole genome sequencing and bioinformatics analysis of two Egyptian genomes
| Autor: | Sungwon Jeon, Jong Bhak, Ahmed Horaiz, Hyunho Kim, Mahmoud ElHefnawi, Youngjune Bhak, JeHoon Jun, Asmaa M. Elfiky |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Mitochondrial DNA Human Y-chromosome DNA haplogroup Single-nucleotide polymorphism Biology DNA Mitochondrial Polymorphism Single Nucleotide Genome 03 medical and health sciences Genetics Humans Gene Phylogeny Whole genome sequencing Chromosomes Human Y Genome Human Genetic Variation Genomics Sequence Analysis DNA General Medicine 030104 developmental biology Mutation Mutation (genetic algorithm) Egypt Human mitochondrial DNA haplogroup |
| Zdroj: | Gene. 668:129-134 |
| ISSN: | 0378-1119 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect