Iranian Genomic Variations
Iranian Genome Variations
The human genome is highly variable and each individual’s genome contains approximately 3.5 million Single Nucleotide Polymorphisms (SNPs) and 1000 large (>500 bp) Copy Number Variations (CNVs).
Today, large scale projects such as the 1000 Genomes and the International HapMap projects have been implemented on large scale samples from different populations such as Europeans, Americans, East Asians, and sub-Saharan Africans to increase our understanding of the contribution of genomic variations to human diseases.
Missing genomic data from some parts of the world in such international genomic databases, for example, different ethnic groups of the Iranian population, can cause difficulties in determining the pathogenicity of some of the coding variants, especially in routine diagnosis. As many human genome variations are known to be ethnicity-specific, a complete picture of human genomic variations requires having representative samples from all the different ethnic groups. In fact, such data play an important role in the prevention, diagnosis and tailored treatment of diseases with a genetic background.
This prompted us to develop a database using genomic data from various healthy Iranian ethnic groups. Although this database has information at the national level, it is also usable by neighboring countries such as Afghanistan, Pakistan, Iraq and Turkey as well as countries around the Persian Gulf area which may share common genetic ancestors.
About the database
Using genomic sequencing data, we generated a comprehensive database from different ethnic groups in Iran. Ethical aspects were taken into consideration. As the first step, we performed whole exome sequencing on 800 anonymized individuals from eight different ethnic groups in Iran. This consisted of 100 healthy individuals, mainly over 40 years of age, from each of the following ethnic groups: Iranian Persians, Iranian Azaris (Turks), Iranian Kurds, Iranian Arabs, Iranian Lurs, Iranian Balochs, Persian Gulf Islanders and Iranian Turkmen.
The coding regions of genomes were enriched using Agilent SureSelect V6 and sequencing was performed using Illumina sequencers. The mean depth of exon coverage was 82x with %95 and %91 coverage at 10x and 20x or more, respectively.
The database can be searched based on the gene, transcript, variant, multi-allelic variants and region as well as ethnicity. These data provide strong support for medical research and genome-wide association studies. Information on all observed DNA variants in normal subjects in the various Iranian ethnic groups will provide stronger confidence, particularly for evaluation of pathogenic genomic alterations observed in patients.
genome-wide association studies. Information on all observed DNA variants in normal subjects in the various Iranian ethnic groups will provide stronger confidence, particularly for evaluation of pathogenic genomic alterations observed in patients.
The database is continuously being updated with new genomic data from different ethnic groups and will be available to all researchers throughout the country.
• Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran
• Ministry of Health & Medical Education, Tehran
• Vice-Presidency for Science and Technology, Tehran
• University of Toronto, Toronto, Ontario, Canada
• Sequencing core facility, Max Planck Institute, Berlin, Germany
The database includes the comprehensive genomic variants of various Iranian ethnic populations which is freely available for researchers, research centers and health professionals.
Access to our database made possible through:
www.iranome.com or www.iranome.ir
You can reach us at: email@example.com
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Update : 2018/1/16