| Literature DB >> 31343797 |
Zohreh Fattahi1,2, Maryam Beheshtian1,2, Marzieh Mohseni1,2, Hossein Poustchi3, Erin Sellars4, Sayyed Hossein Nezhadi5, Amir Amini6, Sanaz Arzhangi1, Khadijeh Jalalvand1, Peyman Jamali7, Zahra Mohammadi3, Behzad Davarnia1, Pooneh Nikuei8, Morteza Oladnabi1, Akbar Mohammadzadeh1, Elham Zohrehvand1, Azim Nejatizadeh8, Mohammad Shekari8, Maryam Bagherzadeh4, Ehsan Shamsi-Gooshki9,10, Stefan Börno11, Bernd Timmermann11, Aliakbar Haghdoost12,13, Reza Najafipour14, Hamid Reza Khorram Khorshid1, Kimia Kahrizi1, Reza Malekzadeh3, Mohammad R Akbari4,15,16, Hossein Najmabadi1,2.
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).Entities:
Keywords: Genome project; Iran; Iranome; genomic variation database; whole exome sequencing
Mesh:
Year: 2019 PMID: 31343797 DOI: 10.1002/humu.23880
Source DB: PubMed Journal: Hum Mutat ISSN: 1059-7794 Impact factor: 4.878