Article
Complete genome sequencing and variant analysis of a Pakistani individual.
Journal of human genetics - 1 Sept 2013
Azim Muhammad Kamran, Yang Chuanchun, Yan Zhixiang, Choudhary Muhammad Iqbal, Khan Asifullah, Sun Xiao, Li Ran, Asif Huma, Sharif Sana, Zhang Yong
Abstract excerpt
We sequenced the genome of a Pakistani male at 25.5x coverage using massively parallel sequencing technology. More than 90% of the sequence reads were mapped to the human reference genome. In subsequent analysis, we identified 3,224,311 single-nucleotide polymorphisms (SNPs), of which 388,532 (12% of the total SNPs) had not been previously recorded in single nucleotide polymorphism database (dbSNP) or the 1000...
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