作者
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‐Gooshki, Stefan Börno, Bernd Timmermann, Aliakbar Haghdoost, Reza Najafipour, Hamid Reza Khorram Khorshid, Kimia Kahrizi, Reza Malekzadeh, Mohammad R Akbari, Hossein Najmabadi
发表日期
2019/11
期刊
Human mutation
卷号
40
期号
11
页码范围
1968-1984
简介
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 …
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Z Fattahi, M Beheshtian, M Mohseni, H Poustchi… - Human mutation, 2019