Literature DB >> 31343797

Iranome: A catalog of genomic variations in the Iranian population.

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).
© 2019 Wiley Periodicals, Inc.

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


  38 in total

1.  Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

Authors:  Dana Marafi; Tadahiro Mitani; Sedat Isikay; Jozef Hertecant; Mohammed Almannai; Kandamurugu Manickam; Rami Abou Jamra; Ayman W El-Hattab; Jaishen Rajah; Jawid M Fatih; Haowei Du; Ender Karaca; Yavuz Bayram; Jaya Punetha; Jill A Rosenfeld; Shalini N Jhangiani; Eric Boerwinkle; Zeynep C Akdemir; Serkan Erdin; Jill V Hunter; Richard A Gibbs; Davut Pehlivan; Jennifer E Posey; James R Lupski
Journal:  Ann Clin Transl Neurol       Date:  2020-04-14       Impact factor: 4.511

2.  When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).

Authors:  Marzieh Mohseni; Mojdeh Akbari; Kevin T Booth; Mojgan Babanejad; Hela Azaiez; Fariba Ardalani; Sanaz Arzhangi; Khadijeh Jalalvand; Nooshin Nikzat; Fatemeh Ghodratpour; Payman Jamali; Omid Ali Adeli; Haleh Habibi; Kimia Kahrizi; Hossein Najmabadi
Journal:  J Hum Genet       Date:  2020-03-30       Impact factor: 3.172

3.  Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.

Authors:  Marzieh Mohseni; Mojgan Babanejad; Kevin T Booth; Payman Jamali; Khadijeh Jalalvand; Behzad Davarnia; Fariba Ardalani; Atefeh Khoshaeen; Sanaz Arzhangi; Fatemeh Ghodratpour; Maryam Beheshtian; Faezeh Jahanshad; Hasan Otukesh; Fatemeh Bahrami; Seyed Morteza Seifati; Niloofar Bazazzadegan; Farkhonde Habibi; Hanieh Behravan; Sepide Mirzaei; Fatemeh Keshavarzi; Nooshin Nikzat; Zohreh Mehrjoo; Holger Thiele; Michael Nothnagel; Hela Azaiez; Richard J Smith; Kimia Kahrizi; Hossein Najmabadi
Journal:  Clin Genet       Date:  2021-03-24       Impact factor: 4.438

Review 4.  Genetic etiology of hearing loss in Iran.

Authors:  Mojgan Babanejad; Maryam Beheshtian; Fereshteh Jamshidi; Marzieh Mohseni; Kevin T Booth; Kimia Kahrizi; Hossein Najmabadi
Journal:  Hum Genet       Date:  2022-01-20       Impact factor: 4.132

5.  The genetic structure of the Turkish population reveals high levels of variation and admixture.

Authors:  M Ece Kars; A Nazlı Başak; O Emre Onat; Kaya Bilguvar; Jungmin Choi; Yuval Itan; Caner Çağlar; Robin Palvadeau; Jean-Laurent Casanova; David N Cooper; Peter D Stenson; Alper Yavuz; Hakan Buluş; Murat Günel; Jeffrey M Friedman; Tayfun Özçelik
Journal:  Proc Natl Acad Sci U S A       Date:  2021-09-07       Impact factor: 11.205

Review 6.  Relevance Between COVID-19 and Host Genetics of Immune Response.

Authors:  Ibrahim Taher; Abdulrahman Almaeen; Amany Ghazy; Mohamed Abu-Farha; Arshad Mohamed Channanath; Sumi Elsa John; Prashantha Hebbar; Hossein Arefanian; Jehad Abubaker; Fahd Al-Mulla; Thangavel Alphonse Thanaraj
Journal:  Saudi J Biol Sci       Date:  2021-07-17       Impact factor: 4.219

7.  A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.

Authors:  Zeinab Jamiri; Rana Khosravi; Mohammad Mehdi Heidari; Ebrahim Kiani; Javad Gharechahi
Journal:  Mol Genet Genomic Med       Date:  2022-02-25       Impact factor: 2.473

Review 8.  Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.

Authors:  Mohammad Vafaee-Shahi; Mohammad Farhadi; Ehsan Razmara; Saeid Morovvati; Saeide Ghasemi; Seyedeh Sedigheh Abedini; Zohreh Bagher; Rafieh Alizadeh; Masoumeh Falah
Journal:  Ir J Med Sci       Date:  2021-08-10       Impact factor: 2.089

Review 9.  Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.

Authors:  Hajar Aryan; Ehsan Razmara; Dariush Farhud; Marjan Zarif-Yeganeh; Shaghayegh Zokaei; Seyed Abbas Hassani; Mahmoud Reza Ashrafi; Masoud Garshasbi; Ali Reza Tavasoli
Journal:  BMC Neurol       Date:  2020-08-03       Impact factor: 2.474

10.  Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Authors:  Elena Perenthaler; Anita Nikoncuk; Soheil Yousefi; Woutje M Berdowski; Maysoon Alsagob; Ivan Capo; Herma C van der Linde; Paul van den Berg; Edwin H Jacobs; Darija Putar; Mehrnaz Ghazvini; Eleonora Aronica; Wilfred F J van IJcken; Walter G de Valk; Evita Medici-van den Herik; Marjon van Slegtenhorst; Lauren Brick; Mariya Kozenko; Jennefer N Kohler; Jonathan A Bernstein; Kristin G Monaghan; Amber Begtrup; Rebecca Torene; Amna Al Futaisi; Fathiya Al Murshedi; Renjith Mani; Faisal Al Azri; Erik-Jan Kamsteeg; Majid Mojarrad; Atieh Eslahi; Zaynab Khazaei; Fateme Massinaei Darmiyan; Mohammad Doosti; Ehsan Ghayoor Karimiani; Jana Vandrovcova; Faisal Zafar; Nuzhat Rana; Krishna K Kandaswamy; Jozef Hertecant; Peter Bauer; Mohammed A AlMuhaizea; Mustafa A Salih; Mazhor Aldosary; Rawan Almass; Laila Al-Quait; Wafa Qubbaj; Serdar Coskun; Khaled O Alahmadi; Muddathir H A Hamad; Salem Alwadaee; Khalid Awartani; Anas M Dababo; Futwan Almohanna; Dilek Colak; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Murat Gunel; A Gulhan Ercan-Sencicek; Gouri Rao Passi; Huma Arshad Cheema; Stephanie Efthymiou; Henry Houlden; Aida M Bertoli-Avella; Alice S Brooks; Kyle Retterer; Reza Maroofian; Namik Kaya; Tjakko J van Ham; Tahsin Stefan Barakat
Journal:  Acta Neuropathol       Date:  2019-12-09       Impact factor: 17.088

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