TY - JOUR
T1 - Iranome
T2 - a catalog of genomic variations in the Iranian population
AU - Fattahi, Zohreh
AU - Beheshtian, Maryam
AU - Mohseni, Marzieh
AU - Poustchi, Hossein
AU - Sellars, Erin
AU - Nezhadi, Sayyed Hossein
AU - Amini, Amir
AU - Arzhangi, Sanaz
AU - Jalalvand, Khadijeh
AU - Jamali, Peyman
AU - Mohammadi, Zahra
AU - Davarnia, Behzad
AU - Nikuei, Pooneh
AU - Oladnabi, Morteza
AU - Mohammadzadeh, Akbar
AU - Zohrehvand, Elham
AU - Nejatizadeh, Azim
AU - Shekari, Mohammad
AU - Bagherzadeh, Maryam
AU - Shamsi-Gooshki, Ehsan
AU - Börno, Stefan
AU - Timmermann, Bernd
AU - Haghdoost, Aliakbar
AU - Najafipour, Reza
AU - Khorram Khorshid, Hamid Reza
AU - Kahrizi, Kimia
AU - Malekzadeh, Reza
AU - Akbari, Mohammad R.
AU - Najmabadi, Hossein
N1 - Funding Information:
This national project could not be completed without the supports in University of Social Welfare & Rehabilitation Sciences in Tehran, Iran. The authors would like to acknowledge the support of Dr.Sorena Sattari, vice-presidency for Science and Technology, and Dr. Hossein Vatanpour the general manager of Technology at Ministry of Health and Medical Education. The authors would like to acknowledge all of the 800 individuals who participated in this project as volunteers and the network of medical experts who helped in sample collection throughout the country. This study was funded by Iran Vice-President Office for Science and Technology (grant number: 11/66100) and Vice deputy for Research and Technology at Iran Ministry of Health and Medical Education, grant number: 700/150.
Funding Information:
This national project could not be completed without the supports in University of Social Welfare & Rehabilitation Sciences in Tehran, Iran. The authors would like to acknowledge the support of Dr.Sorena Sattari, vice‐presidency for Science and Technology, and Dr. Hossein Vatanpour the general manager of Technology at Ministry of Health and Medical Education. The authors would like to acknowledge all of the 800 individuals who participated in this project as volunteers and the network of medical experts who helped in sample collection throughout the country. This study was funded by Iran Vice‐President Office for Science and Technology (grant number: 11/66100) and Vice deputy for Research and Technology at Iran Ministry of Health and Medical Education, grant number: 700/150.
Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/11
Y1 - 2019/11
N2 - 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).
AB - 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).
KW - Genome project
KW - genomic variation database
KW - Iran
KW - Iranome
KW - whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85071172329&partnerID=8YFLogxK
U2 - 10.1002/humu.23880
DO - 10.1002/humu.23880
M3 - Article
C2 - 31343797
AN - SCOPUS:85071172329
SN - 1059-7794
VL - 40
SP - 1968
EP - 1984
JO - Human Mutation
JF - Human Mutation
IS - 11
ER -