Scopus Eşleşmesi Bulundu
284
Atıf
48
Cilt
1071-1079
Sayfa
Scopus Yazarları: Yuval Itan, Emily G. Spencer, Yupeng He, Mostafa Abdellateef Azab, Stacey B. Gabriel, Aziz Belkadi, Laurent Abel, Andrew G. Clark, Amal Al-Hashem, Deema Al-Jeaid, Zobaida Alsum, Aomar Ammar-Khodja, Sepideh Amouian, Lobna Boussafara, Jeannette Boutros, Jacinta Bustamante, Yıldız Camcıoglu, Michael J. Ciancanelli, Funda E. Cipe, Gary Clark, Antonio Condino-Neto, Mukesh Desai, Odul Egritas, Safa El Azbaoui, Sohair Abdel Rahim, Fowzan S. Alkuraya, Waleed Al-Herz, Alexandre Alcais, Caner Aytekin, Matloob Azam, Boglarka Bansagi, Mohamed Rhida Barbouche, Laila Bastaki, Tawfeg Ben-Omran, Parayil Sankaran Bindu, Lizbeth Blancas, Damien Bonnet, Omar Boudghene Stambouli, Jamila El Baghdadi, Mona El Ruby, Ashraf El-Harouni, Raoul Hennekam, Massoud Houshmand, Anason Halees, Jean Laurent Casanova, Parisa Adimi, Mustafa Akcakus, Guside Aksu, Sami Al Hajjar, Saleh Zaid Al-Muhsen, Nouriya Al Sannaa, Salem Al Tameni, Jumana Al-Aama, Nasir Al-Allawi, Raidah Al-Baradie, Lihadh Al-Gazali, Asma Al-Tawari, Abdullah Alangari, Tariq S. AlFawaz, Cigdem Arikan, Omid Aryani, Ayca Aslanger, Cigdem Aydogmus, Huseyin Çaksen, Emilie Catherinot, Fatma C. Celik, William Dobyns, Figen Dogu, Meltem Dorum, Reem A. Elfeky, Gehad Elghazali, Eissa Faqeih, Nevin Hatipoglu, Philippe Ichai, Eric M. Scott, Bertrand Boisson, Joseph G. Gleeson, Mohammed Abdou, Avinash Abhytankar, Jamil Ahmad, Suliman Al Juamaah, Stéphanie Boisson-Dupuis, Ahmed A. Bousfiha, Aurélie Cobat, Sinan Comu, Angela Condie, Mohamed Domaia, Claire Fieschi, Cipe Funda, Iman Gamal, Umit Gelik, Fetah Genel, Alper Gezdirici, Katta M. Girisha, Amy Goldstein, Padraic Grattan-Smith, Neerja Gupta, Jin Hahn, Aydan Ikinciogullari, Elif Fenerci
Özet
The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.
Scimago Dergi Bilgisi
Otomatik ISSN Eşleştirmesi
2016 yılı verileri
Nature Genetics
Q1
SJR Quartile
21,979
SJR Skoru
660
H-Index
Kategoriler: Genetics (Q1)
Alanlar: Biochemistry, Genetics and Molecular Biology
Ülke: United Kingdom
· Nature Research
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Dergi sıralama verileri Scimago'nun ilgili yılı baz alınmaktadır.
Makale Bilgileri
Dergi
Springer Science and Business Media LLC
ISSN
1061-4036
Yıl
2016
/ 7. ay
Cilt / Sayı
48
Sayfalar
1071 – 1077
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q1
Yayın Dili
Türkçe
Kapsam
Uluslararası
Toplam Yazar
46 kişi
Erişim Türü
Basılı+Elektronik
DOI
10.1038/ng.3592
Erişim Linki
Makaleye Git
Alan
Sağlık Bilimleri Temel Alanı
Çocuk Gastroenterolojisi (Çocuk Sağlığı ve Hastalıkları)
YÖKSİS Yazar Kaydı
Yazar Adı
SCOTT ERİC M, HALEES ANASON, ITAN YUVAL, SPENCER EMİLY G, HE YUPENG, AZAB MOSTAFA ABDELLATEEF, GABRİEL STACEY B, BELKADİ AZİZ, BOİSSON BERTRAND, ABEL LAURENT, CLARK ANDREW G, VARİOME CONSORTİUM GREATER MİDDLE EAST, ALKURAYA FOWZAN S, CASONOVA JEAN-LAURENT, GLEESON JOSEPH G, ASLANGER AYÇA, ARIKAN ÇİĞDEM, AYDOĞMUŞ ÇİĞDEM, Aytekin Caner, ÇAKSEN HÜSEYİN, CAMCIOĞLU YILDIZ, ÇELİK FATMA C, DOĞU ESİN FİGEN, GÜMÜŞ MELTEM, EĞRİTAŞ GÜRKAN ÖDÜL, GELİK ÜMİT, GENEL FETAH, GEZDİRİCİ ALPER, İKİNCİOĞULLARI KAMİLE AYDAN, KALKAN GÖKNUR, KARACA NESLİHAN, KARAER KADRİ, KAYSERİLİ KARABEY HÜLYA, EMİROĞLU MELİKE, KÜTÜKÇÜLER NECİL, PANDALUZ AYŞE, PATIROĞLU TÜRKAN, REİSLİ İSMAİL, ŞAHİN YASİN, SANAL ŞAZİYE ÖZDEN, TÜYSÜZ BEYHAN, VARAN ALİ, YEŞİL SAYIN GÖZDE, YILDIRAN ALİŞAN, YILDIZ BAŞAK, YÜKSEL ADNAN
YÖKSİS ID
7398305
Hızlı Erişim
Metrikler
Scopus Atıf
284
JCR Quartile
Q1
Yazar Sayısı
46