Iranome: a catalog of genomic variations in the Iranian population

Zohreh Fattahi, Maryam Beheshtian, Marzieh Mohseni, Hossein Poustchi, Erin Sellars, Sayyed Hossein Nezhadi, Amir Amini, Sanaz Arzhangi, Khadijeh Jalalvand, Peyman Jamali, Zahra Mohammadi, Behzad Davarnia, Pooneh Nikuei, Morteza Oladnabi, Akbar Mohammadzadeh, Elham Zohrehvand, Azim Nejatizadeh, Mohammad Shekari, Maryam Bagherzadeh, Ehsan Shamsi-GooshkiStefan Börno, Bernd Timmermann, Aliakbar Haghdoost, Reza Najafipour, Hamid Reza Khorram Khorshid, Kimia Kahrizi, Reza Malekzadeh, Mohammad R. Akbari, Hossein Najmabadi

Research output: Contribution to journalArticleResearchpeer-review

127 Citations (Scopus)

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.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 Iranian-Baluchs, Iranian-Turkmen, and Iranian-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 catalog of Iranian genomic variations and also filling another gap in the catalog 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).

Original languageEnglish
Pages (from-to)1968-1984
Number of pages17
JournalHuman Mutation
Volume40
Issue number11
DOIs
Publication statusPublished - Nov 2019
Externally publishedYes

Keywords

  • Genome project
  • genomic variation database
  • Iran
  • Iranome
  • whole exome sequencing

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