Getting poster data...
M. Kamran Azim, Yong Zhang, M. Iqbal Choudhary, Zhixiang Yan, Chuanchun Yang, Asifullah Khan, Huma Asif and Yasmeen Rashid (BGI, Shenzhen, China; 2PCMD, University of Karachi, Karachi, Pakistan)Pakistan constitutes the north-western part of Indian Subcontinent, situated at the crossroads of South Asia, Central Asia and the Middle East. The region comes under the postulated routes of early migration from Africa. Pakistan is situated in the region considered as cradle of civilization where one of the earliest human civilizations flourished along the fertile valleys of river Indus. Most of Pakistani population has north Indian ancestry; genetically closer to Middle Easterners, Central Asians, and Europeans. We report the genome analysis of a Pakistani individual using massively parallel sequencing with 25.5 X coverage. More than 90% of the sequence reads were mapped to the reference human genome. We identified 3,224,311 single nucleotide variations (SNPs) out of which 388,532 SNPs were not present in dbSNP and 1K genome database. The 5991 non-synonymous coding variants were screened for diseases associated SNPs. Total 59,558 indels (1~5 bp) and 16,063 structural variations were identified. The current genome sequence information would be used as reference for incoming ethnically diverse South Asian population genomes.