The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Sci Data. 2018 Sep 11;5:180174. doi: 10.1038/sdata.2018.174.
Here we report next-generation based whole genome sequencing of two individuals (H1 and H2) from a family of Pakistani descent. The genomic DNA was used to prepare paired-end libraries for whole-genome sequencing. Deep sequencing yielded 706.49 and 778.12 million mapped reads corresponding to 70.64 and 77.81 Gb sequence data and 23× and 25× average coverage for H1 and H2, respectively. Notably, a total of 448,544 and 470,683 novel variants, not present in the single nucleotide polymorphism database (dbSNP), were identified in H1 and H2, respectively. Comparative analysis identified 2,415,852 variants common in both genomes including 240,181 variants absent in the dbSNP. Principal component analysis linked the ancestry of both genomes with South Asian populations. In conclusion, we report whole genome sequences of two individuals from a family of Pakistani descent.
我们在此报告了对来自巴基斯坦裔家庭的两个人（H1 和 H2）进行的基于新一代技术的全基因组测序。使用基因组 DNA 为全基因组测序制备了配对末端文库。深度测序产生了 7.0649 亿和 7.7812 亿个映射读段，分别对应 70.64 亿和 77.81 亿碱基对序列数据和 H1 和 H2 的平均覆盖度为 23×和 25×。值得注意的是，在 H1 和 H2 中分别鉴定出了总计 448544 个和 470683 个不在单核苷酸多态性数据库（dbSNP）中的新变体。比较分析确定了两个基因组中共同的 2415852 个变体，包括 240181 个在 dbSNP 中不存在的变体。主成分分析将两个基因组的起源与南亚人群联系起来。总之，我们报告了来自巴基斯坦裔家庭的两个人的全基因组序列。
