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Whole genome sequencing and bioinformatics analysis of two Egyptian genomes
被引:6
|作者:
ElHefnawi, Mahmoud
[1
,2
]
Jeon, Sungwon
[3
,4
]
Bhak, Youngjune
[3
,4
]
ElFiky, Asmaa
[1
,2
,5
]
Horaiz, Ahmed
[1
,2
]
Jun, JeHoon
[6
,7
]
Kim, Hyunho
[7
]
Bhak, Jong
[3
,4
,7
]
机构:
[1] Natl Res Ctr, Biomed Informat & Chemoinformat Grp, CEAS, Cairo 12622, Egypt
[2] Natl Res Ctr, Informat & Syst Dept, Cairo 12622, Egypt
[3] UNIST, Korean Genom Industrializat & Commercializat Ctr, Ulsan 44919, South Korea
[4] UNIST, Dept Biomed Engn, Sch Life Sci, Ulsan 44919, South Korea
[5] Natl Res Ctr, Environm & Occupat Med Dept, Cairo 12622, Egypt
[6] Genome Res Fdn, Personal Genom Inst, Cheongju 28160, South Korea
[7] Geromics, Ulsan 44919, South Korea
来源:
关键词:
Whole-genome sequencing;
Egyptian;
Variants;
Human migration;
Bioinformatics;
MITOCHONDRIAL-DNA;
SKIN PIGMENTATION;
NORTH-AFRICA;
GENE;
POPULATION;
POLYMORPHISM;
INDIVIDUALS;
ASSOCIATION;
INHERITANCE;
NEUROPATHY;
D O I:
10.1016/j.gene.2018.05.048
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
We report two Egyptian male genomes (EGP1 and EGP2) sequenced at similar to 30 x 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 (Rib) 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.
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页码:129 / 134
页数:6
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