Whole-genome sequencing of multiple individuals of Pakistani Descent

Here we report next-generation based whole-genome sequencing of four individuals (H3, H4, H5, and H6) form 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. Comparative analysis identified 1,668,024 total variants and 1,792 novel SNPs common in four genomes. Notably, a total of 42,422, 39,824, 28,599, and 35,206 novel variants (~1.0% of total variants) were identified in H3, H4, H5, and H6, respectively. A major fraction of variants were identified in intergenic regions of the genome. Principal component analysis linked the ancestry of all four genomes with South Asian populations, which was further supported by mitochondrial genome-based haplogroups. In conclusion, we report the whole-genome sequencing of four individuals from a family of Pakistani descent.