The Iranian Genomes Project. R. Daneshjou1, M. Ronaghi2, C. D. Bustamante1, P. C. Sabeti3, R. B. Altman1 1) Genetics, Stanford University, Stanford, CA; 2) Illumina Inc., San Diego, CA; 3) Department of Human Evolutionary Biology, Harvard University, Cambridge, MA.
While large-scale full-genome studies, such as the 1000 Genomes Project, have examined genetic variation for many of the worlds populations, Middle Eastern populations have remained little studied. This groups unique history and geographic location, at the presumed bottleneck of the out of Africa migration, make them an important population to investigate. Here, we present the Iranian Genome Project, an effort to deeply sequence (at 30x coverage) over 50 individuals of Iranian descent. Our cohort includes conserved and understudied sub-populations from Iran, such as Zoroastrian, Bakhtiari, and Jewish populations. We explore the relationship between the Iranian population to other 1000 Genomes populations and the relationships between the Iranian sub-populations using EIGENSOFT software and the HAPMIX algorithm to compute FST and Principle Components Analysis (PCA). We further identify variants that are unique to the Iranian population and predict the functional impact of these variants. Because ancestry is an important consideration in clinical genetics, we identify the frequency of known or predicted damaging mutations in genes identified by the recent American College of Medical Genetics and Genomics (ACMG) guidelines on incidental findings in genome sequencing. Additionally, we calculate frequencies for important known clinical pharmacogenetic variants and identify new variants in known pharmacogenetic genes, which may play an important role in this population. Given the importance of diverse reference sequences for both population and clinical genetics, the Iranian Genome Project serves to fill in the gap by providing deeply sequenced genomes from a key but unexplored Middle Eastern population.
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