Scopus
YÖKSİS Eşleşti
Characterization of greater middle eastern genetic variation for enhanced disease gene discovery
Nature Genetics · Eylül 2016
YÖKSİS Kayıtları
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Nature Genetics · 2016 SCI
DOÇENT MELİKE EMİROĞLU →
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Springer Science and Business Media LLC · 2016 SCI-Expanded
DOKTOR ÖĞRETİM ÜYESİ MELTEM GÜMÜŞ →
Makale Bilgileri
DergiNature Genetics
Yayın TarihiEylül 2016
Cilt / Sayfa48 · 1071-1079
Scopus ID2-s2.0-84978705937
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.
Yazarlar (100)
1
Eric M. Scott
2
Anason Halees
3
Yuval Itan
4
Emily G. Spencer
5
Yupeng He
6
Mostafa Abdellateef Azab
7
Stacey B. Gabriel
8
Aziz Belkadi
9
Bertrand Boisson
10
Laurent Abel
ORCID: 0000-0001-7016-6493
11
Andrew G. Clark
12
Sohair Abdel Rahim
13
Fowzan S. Alkuraya
14
Jean Laurent Casanova
ORCID: 0000-0002-7782-4169
15
Joseph G. Gleeson
16
Mohammed Abdou
17
Avinash Abhytankar
18
Parisa Adimi
19
Jamil Ahmad
20
Mustafa Akcakus
21
Guside Aksu
22
Sami Al Hajjar
23
Suliman Al Juamaah
24
Saleh Zaid Al-Muhsen
25
Nouriya Al Sannaa
26
Salem Al Tameni
27
Jumana Al-Aama
28
Nasir Al-Allawi
29
Raidah Al-Baradie
30
Lihadh Al-Gazali
31
Amal Al-Hashem
32
Waleed Al-Herz
33
Deema Al-Jeaid
34
Asma Al-Tawari
35
Abdullah Alangari
36
Alexandre Alcais
37
Tariq S. AlFawaz
38
Zobaida Alsum
39
Aomar Ammar-Khodja
40
Sepideh Amouian
41
Cigdem Arikan
42
Omid Aryani
43
Ayca Aslanger
44
Cigdem Aydogmus
45
Caner Aytekin
46
Matloob Azam
47
Boglarka Bansagi
48
Mohamed Rhida Barbouche
49
Laila Bastaki
50
Tawfeg Ben-Omran
51
Parayil Sankaran Bindu
52
Lizbeth Blancas
53
Stéphanie Boisson-Dupuis
54
Damien Bonnet
55
Omar Boudghene Stambouli
56
Ahmed A. Bousfiha
57
Lobna Boussafara
58
Jeannette Boutros
59
Jacinta Bustamante
60
Huseyin Çaksen
61
Yıldız Camcıoglu
62
Emilie Catherinot
63
Fatma C. Celik
64
Michael J. Ciancanelli
65
Funda E. Cipe
66
Gary Clark
67
Aurélie Cobat
ORCID: 0000-0001-7209-6257
68
Sinan Comu
69
Angela Condie
70
Antonio Condino-Neto
ORCID: 0000-0002-1069-3117
71
Mukesh Desai
72
William Dobyns
73
Figen Dogu
74
Mohamed Domaia
75
Meltem Dorum
76
Odul Egritas
77
Safa El Azbaoui
78
Jamila El Baghdadi
79
Mona El Ruby
80
Ashraf El-Harouni
81
Reem A. Elfeky
82
Gehad Elghazali
83
Eissa Faqeih
84
Elif Fenerci
85
Claire Fieschi
86
Cipe Funda
87
Iman Gamal
88
Umit Gelik
89
Fetah Genel
90
Alper Gezdirici
91
Katta M. Girisha
92
Amy Goldstein
93
Padraic Grattan-Smith
94
Neerja Gupta
95
Jin Hahn
96
Nevin Hatipoglu
97
Raoul Hennekam
98
Massoud Houshmand
99
Philippe Ichai
100
Aydan Ikinciogullari
Kurumlar
Broad Institute
Cambridge United States
College of Medicine Alfaisal University
Riyadh Saudi Arabia
Cornell University College of Agriculture and Life Sciences
Ithaca United States
Department of Neurosciences
La Jolla United States
Hôpital Necker Enfants Malades
Paris France
King Faisal Specialist Hospital & Research Centre
Riyadh Saudi Arabia
Rockefeller University
New York United States
Université Paris Cité
Paris France
Metrikler
284
Atıf
100
Yazar