Whole genome sequencing data of multiple individuals of Pakistani descent.
Whole genome sequencing data of multiple individuals of Pakistani descent.
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DOI：
10.1038/s41597-020-00664-2
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发表时间：
2020-10-13
期刊：
影响因子：
9.8
通讯作者：
Riazuddin SA
中科院分区：
文献类型：
--
作者：
Khan SY;Ali M;Lee MW;Ma Z;Biswas P;Khan AA;Naeem MA;Riazuddin S;Riazuddin S;Ayyagari R;Hejtmancik JF;Riazuddin SA
在这里，我们报告了来自巴基斯坦血统家庭的四个人（H3, H4， H5和H6）的全基因组测序。全基因组测序得到1084.92、894.73、1068.62、100577万个映射reads，对应162.73、134.21、160.29、150.86 Gb序列数据，H3、H4、H5、H6的平均覆盖率分别为52.49、43.29、51.70、48.66x。我们分别在H3、H4、H5和H6基因组中鉴定出3,529,659、3,478,495、3,407,895和3,426,862个变异，其中包括四个基因组中常见的1,668,024个变异。此外，我们在H3、H4、H5和H6的基因组中分别鉴定出42,422、39,824、28,599和35,206个新变异。在四个基因组中发现的变异的主要部分位于基因组的基因间区域。基于单核苷酸多态性（SNP）的基因型分析与1000个基因组数据库种族人群的比较分析将所有4个基因组的祖先与南亚人群联系起来，基于线粒体的单倍群分析进一步支持了这一结果。总之，我们报告了四个巴基斯坦血统个体的全基因组测序。描述报告数据的机器可访问元数据文件：10.6084/m9.figshare.12642761
Here we report whole genome sequencing of four individuals (H3, H4, H5, and H6) from a family of Pakistani descent. Whole genome sequencing yielded 1084.92, 894.73, 1068.62, and 1005.77 million mapped reads corresponding to 162.73, 134.21, 160.29, and 150.86 Gb sequence data and 52.49x, 43.29x, 51.70x, and 48.66x average coverage for H3, H4, H5, and H6, respectively. We identified 3,529,659, 3,478,495, 3,407,895, and 3,426,862 variants in the genomes of H3, H4, H5, and H6, respectively, including 1,668,024 variants common in the four genomes. Further, we identified 42,422, 39,824, 28,599, and 35,206 novel variants in the genomes of H3, H4, H5, and H6, respectively. A major fraction of the variants identified in the four genomes reside within the intergenic regions of the genome. Single nucleotide polymorphism (SNP) genotype based comparative analysis with ethnic populations of 1000 Genomes database linked the ancestry of all four genomes with the South Asian populations, which was further supported by mitochondria based haplogroup analysis. In conclusion, we report whole genome sequencing of four individuals of Pakistani descent. Machine-accessible metadata file describing the reported data: 10.6084/m9.figshare.12642761
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DOI：
10.1093/bioinformatics/btq033
发表时间：
2010-03-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Quinlan AR;Hall IM
通讯作者：
Hall IM
影响因子：
64.8
作者：
Gurdasani, Deepti;Carstensen, Tommy;Tekola-Ayele, Fasil;Pagani, Luca;Tachmazidou, Ioanna;Hatzikotoulas, Konstantinos;Karthikeyan, Savita;Iles, Louise;Pollard, Martin O.;Choudhury, Ananyo;Ritchie, GrahamR. S.;Xue, Yali;Asimit, Jennifer;Nsubuga, Rebecca N.;Young, Elizabeth H.;Pomilla, Cristina;Kivinen, Katja;Rockett, Kirk;Kamali, Anatoli;Doumatey, Ayo P.;Asiki, Gershim;Seeley, Janet;Sisay-Joof, Fatoumatta;Jallow, Muminatou;Tollman, Stephen;Mekonnen, Ephrem;Ekong, Rosemary;Oljira, Tamiru;Bradman, Neil;Bojang, Kalifa;Ramsay, Michele;Adeyemo, Adebowale;Bekele, Endashaw;Motala, Ayesha;Norris, Shane A.;Pirie, Fraser;Kaleebu, Pontiano;Kwiatkowski, Dominic;Tyler-Smith, Chris;Rotimi, Charles;Zeggini, Eleftheria;Sandhu, Manjinder S.
通讯作者：
Sandhu, Manjinder S.
影响因子：
1.2
作者：
Cingolani, Pablo;Platts, Adrian;Ruden, Douglas M.
通讯作者：
Ruden, Douglas M.
影响因子：
64.8
作者：
Li, Heng;Durbin, Richard
通讯作者：
Durbin, Richard
影响因子：
9.8
作者：
Li, Bingshan;Leal, Suzanne M.
通讯作者：
Leal, Suzanne M.