English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Iranome: A catalogue of genomic variations in the Iranian population

Fattahi, Z., Beheshtian, M., Mohseni, M., Poustchi, H., Sellars, E., Nezhadi, S. H., et al. (2019). Iranome: A catalogue of genomic variations in the Iranian population. Human Mutation, 2019, 1-17. doi:10.1002/humu.23880.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/21.11116/0000-0004-DBEE-A Version Permalink: http://hdl.handle.net/21.11116/0000-0004-DBEF-9
Genre: Journal Article

Files

show Files
hide Files
:
Fattahi_2019.pdf (Publisher version), 4MB
Name:
Fattahi_2019.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2019 Wiley Periodicals, Inc.
License:
-

Locators

show

Creators

show
hide
 Creators:
Fattahi, Zohreh , Author
Beheshtian, Maryam , Author
Mohseni, Marzieh , Author
Poustchi, Hossein , Author
Sellars, Erin, Author
Nezhadi, Sayyed Hossein , Author
Amini, Amir, Author
Arzhangi, Sanaz , Author
Jalalvand, Khadijeh , Author
Jamali, Peyman , Author
Mohammadi, Zahra , Author
Davarnia, Behzad , Author
Nikuei, Pooneh , Author
Oladnabi, Morteza , Author
Mohammadzadeh, Akbar , Author
Zohrehvand, Elham , Author
Nejatizadeh, Azim , Author
Shekari, Mohammad , Author
Bagherzadeh, Maryam , Author
Shamsi‐Gooshki, Ehsan , Author
Börno, Stefan1, Author              Timmermann, Bernd1, Author              Haghdoost, Aliakbar , AuthorNajafipour, Reza , AuthorKhorram Khorshid, Hamid Reza , AuthorKahrizi, Kimia , AuthorMalekzadeh, Reza , AuthorAkbari, Mohammad R. , AuthorNajmabadi, Hossein , Author more..
Affiliations:
1Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              

Content

show
hide
Free keywords: Genome project; Iran; Iranome; genomic variation database; whole exome sequencing
 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).

Details

show
hide
Language(s): eng - English
 Dates: 2019-07-222019-07-25
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1002/humu.23880
PMID: 31343797
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Human Mutation
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: New York, NY : Wiley-Liss
Pages: - Volume / Issue: 2019 Sequence Number: - Start / End Page: 1 - 17 Identifier: -