Distinctive Features of a Saudi Genome

We have fully sequenced the genome of an individual from the region of Saudi Arabia. In order to facilitate comparative analysis, an initial characterization of the new genome was undertaken based on single nucleotide polymorphism (SNP). The SNP data having associated population statistics, essentially the HapMap, served to identify features that were rare by comparison. Methods were developed and applied to tag observed SNPs as different and were extended to identify strings or clusters of difference in the individual relative to comparison populations to effectively increase the significance over single SNP comparison. Difference strings identified in the individual relative to each comparison population showed a genome location pattern with various levels of overlap between the comparison populations. The SNP frequencies from the HapMap population samples Ceu and Yri showed a difference inversion relative to the sample genome. The total SNP difference count was greatest between the individual and the Yri population sample while the number and total span of SNP difference clusters was greatest in comparison with the Ceu population sample. The final pattern of difference clusters has served to define distinctive features in the individual genome toward preliminary characterization.

Alabdulkareem, I. B., Robertson, A. J., Al Garawi, S., Aljumah, M., Al-Turki, S., & Al Balwi, M. A. (2015). Distinctive Features of a Saudi Genome. doi:10.1101/015909

This work was funded by King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.

Cold Spring Harbor Laboratory


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