Homo sapiens Genome sequencing

To delineate rare variants in the Pakistani population and to develop a resource, we sequenced the whole genome of two male members of the Pakistani family. The genomic DNA was used to prepare two 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 each genome. Notably, a total of 448,544 and 470,683 novel variants, not present in the Single Nucleotide Polymorphism database (dbSNP), were identified in the genomes. Comparative analysis identified 2,415,852 variants common to both genomes, including 240,181 not present in the dbSNP. In conclusion, we report the whole genomes of two individuals of Punjabi ethnicity from Pakistan.