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
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.
引用
收藏
页码:129 / 134
页数:6
相关论文
共 50 条
  • [1] Bioinformatics for whole-genome shotgun sequencing of microbial communities
    Chen, K
    Pachter, L
    PLOS COMPUTATIONAL BIOLOGY, 2005, 1 (02) : 106 - 112
  • [2] Bioinformatics tools for whole genomes
    Searls, DB
    ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2000, 1 : 251 - 279
  • [3] Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid
    Mao, Qing
    Chin, Robert
    Xie, Weiwei
    Deng, Yuqing
    Zhang, Wenwei
    Xu, Huixin
    Zhang, Rebecca Yu
    Shi, Quan
    Peters, Erin E.
    Gulbahce, Natali
    Li, Zhenyu
    Chen, Fang
    Drmanac, Radoje
    Peters, Brock A.
    CLINICAL CHEMISTRY, 2018, 64 (04) : 715 - 725
  • [4] Plantagora: Modeling Whole Genome Sequencing and Assembly of Plant Genomes
    Barthelson, Roger
    McFarlin, Adam J.
    Rounsley, Steven D.
    Young, Sarah
    PLOS ONE, 2011, 6 (12):
  • [5] Bioinformatics tools used for whole-genome sequencing analysis of Neisseria gonorrhoeae: a literature review
    Singh, Reema
    Kusalik, Anthony
    Dillon, Jo-Anne R.
    BRIEFINGS IN FUNCTIONAL GENOMICS, 2022, 21 (02) : 78 - 89
  • [6] Methy-Pipe: An Integrated Bioinformatics Pipeline for Whole Genome Bisulfite Sequencing Data Analysis
    Jiang, Peiyong
    Sun, Kun
    Lun, Fiona M. F.
    Guo, Andy M.
    Wang, Huating
    Chan, K. C. Allen
    Chiu, Rossa W. K.
    Lo, Y. M. Dennis
    Sun, Hao
    PLOS ONE, 2014, 9 (06):
  • [7] Whole genome bioinformatics
    Smith, T
    UNIFYING THEMES IN COMPLEX SYSTEMS, 2000, : 55 - 68
  • [8] Comparative genome analysis of two Cephalosporium gramineum isolates based on whole genome sequencing
    Sheng, H.
    Baaj, D. Wafai
    Murray, T. D.
    PHYTOPATHOLOGY, 2022, 112 (11) : 174 - 174
  • [9] Deep whole-genome sequencing of 90 Han Chinese genomes
    Lan, Tianming
    Lin, Haoxiang
    Zhu, Wenjuan
    Laurent, Tellier Christian Asker Melchior
    Yang, Mengcheng
    Liu, Xin
    Wang, Jun
    Wang, Jian
    Yang, Huanming
    Xu, Xun
    Guo, Xiaosen
    GIGASCIENCE, 2017, 6 (09):
  • [10] The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
    Turnbull, Clare
    Scott, Richard H.
    Thomas, Ellen
    Jones, Louise
    Murugaesu, Nirupa
    Pretty, Freya Boardman
    Halai, Dina
    Baple, Emma
    Craig, Clare
    Hamblin, Angela
    Henderson, Shirley
    Patch, Christine
    O'Neill, Amanda
    Devereau, Andrew
    Smith, Katherine
    Martin, Antonio Rueda
    Sosinsky, Alona
    McDonagh, Ellen M.
    Sultana, Razvan
    Mueller, Michael
    Smedley, Damian
    Toms, Adam
    Dinh, Lisa
    Fowler, Tom
    Bale, Mark
    Hubbard, Tim
    Rendon, Augusto
    Hill, Sue
    Caulfield, Mark J.
    BMJ-BRITISH MEDICAL JOURNAL, 2018, 361