Repository of Research and Investigative Information

Repository of Research and Investigative Information

Hormozgan University of Medical Sciences

Iranome: A catalogue of genomic variations in the Iranian population

(2019) Iranome: A catalogue of genomic variations in the Iranian population. Hum Mutat.

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Official URL: https://onlinelibrary.wiley.com/doi/abs/10.1002/hu...

Abstract

Considering the application of human genome variation databases in precision medicine, population-specific genome projects are continuously being developed. However, the Middle Eastern population is underrepresented in current databases. Accordingly, we established Iranome database (www.iranome.ir/com) by performing whole exome sequencing on 800 individuals from eight major Iranian ethnic groups representing the second largest population of Middle East. We identified 1,575,702 variants of which 308,311 were novel (19.6%). Also, by presenting higher frequency for 37,384 novel or known rare variants, Iranome database can improve the power of molecular diagnosis. Moreover, attainable clinical information makes this database a good resource for classifying pathogenicity of rare variants. Principal components analysis indicated that, apart from Baluchs, Turkmen and Persian Gulf Islanders, who form their own clusters, rest of the population were genetically linked, forming a super-population. Furthermore, only 0.6% of novel variants showed counterparts in "Greater Middle East Variome Project", emphasizing the value of Iranome at national level by releasing a comprehensive catalogue of Iranian genomic variations and also filling another gap in the catalogue of human genome variations at international level. We introduce Iranome as a resource which may also be applicable in other countries located in neighboring regions historically called Greater Iran (Persia). This article is protected by copyright. All rights reserved.

Item Type: Article
Keywords: Genome project; Iran; Iranome; genomic variation database; whole exome sequencing
Subjects: QU Biochemistry. Cell Biology and Genetics > QU 300-560 Cell Biology and Genetics
Divisions: Research Vice-Chancellor Department > Molecular Medicine Research Center
Depositing User: هدی فهیم پور
URI: http://eprints.hums.ac.ir/id/eprint/6578

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