Genetic variation in the Middle East-an opportunity to advance the human genetics field

被引:28
作者
Abou Tayoun, Ahmad N. [1 ,2 ]
Rehm, Heidi L. [3 ,4 ,5 ]
机构
[1] Al Jalila Childrens Hosp, Al Jalila Genom Ctr, Dubai, U Arab Emirates
[2] Mohammed Bin Rashid Univ Med & Hlth Sci, Coll Med, Dubai, U Arab Emirates
[3] Broad Inst MIT & Harvard, Med & Populat Genet Program & Genom Platform, Cambridge, MA 02142 USA
[4] Harvard Med Sch, Dept Pathol, Boston, MA 02115 USA
[5] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA
基金
美国国家卫生研究院;
关键词
DISEASE;
D O I
10.1186/s13073-020-00821-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the limiting factors and possible solutions to generating and accessing research and clinical sequencing data from this part of the world.
引用
收藏
页数:4
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共 10 条
[1]   Revisiting the morbid genome of Mendelian disorders [J].
Abouelhoda, Mohamed ;
Faquih, Tariq ;
El-Kalioby, Mohamed ;
Alkuraya, Fowzan S. .
GENOME BIOLOGY, 2016, 17
[2]   Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation [J].
Alsalem, Ahmed B. ;
Halees, Anason S. ;
Anazi, Shamsa ;
Alshamekh, Shomoukh ;
Alkuraya, Fowzan S. .
PLOS GENETICS, 2013, 9 (12)
[3]   Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants [J].
Fu, Wenqing ;
O'Connor, Timothy D. ;
Jun, Goo ;
Kang, Hyun Min ;
Abecasis, Goncalo ;
Leal, Suzanne M. ;
Gabriel, Stacey ;
Altshuler, David ;
Shendure, Jay ;
Nickerson, Deborah A. ;
Bamshad, Michael J. ;
Akey, Joshua M. .
NATURE, 2013, 493 (7431) :216-220
[4]   The mutational constraint spectrum quantified from variation in 141,456 humans [J].
Karczewski, Konrad J. ;
Francioli, Laurent C. ;
Tiao, Grace ;
Cummings, Beryl B. ;
Alfoldi, Jessica ;
Wang, Qingbo ;
Collins, Ryan L. ;
Laricchia, Kristen M. ;
Ganna, Andrea ;
Birnbaum, Daniel P. ;
Gauthier, Laura D. ;
Brand, Harrison ;
Solomonson, Matthew ;
Watts, Nicholas A. ;
Rhodes, Daniel ;
Singer-Berk, Moriel ;
England, Eleina M. ;
Seaby, Eleanor G. ;
Kosmicki, Jack A. ;
Walters, Raymond K. ;
Tashman, Katherine ;
Farjoun, Yossi ;
Banks, Eric ;
Poterba, Timothy ;
Wang, Arcturus ;
Seed, Cotton ;
Whiffin, Nicola ;
Chong, Jessica X. ;
Samocha, Kaitlin E. ;
Pierce-Hoffman, Emma ;
Zappala, Zachary ;
O'Donnell-Luria, Anne H. ;
Minikel, Eric Vallabh ;
Weisburd, Ben ;
Lek, Monkol ;
Ware, James S. ;
Vittal, Christopher ;
Armean, Irina M. ;
Bergelson, Louis ;
Cibulskis, Kristian ;
Connolly, Kristen M. ;
Covarrubias, Miguel ;
Donnelly, Stacey ;
Ferriera, Steven ;
Gabriel, Stacey ;
Gentry, Jeff ;
Gupta, Namrata ;
Jeandet, Thibault ;
Kaplan, Diane ;
Llanwarne, Christopher .
NATURE, 2020, 581 (7809) :434-+
[5]   Analysis of protein-coding genetic variation in 60,706 humans [J].
Lek, Monkol ;
Karczewski, Konrad J. ;
Minikel, Eric V. ;
Samocha, Kaitlin E. ;
Banks, Eric ;
Fennell, Timothy ;
O'Donnell-Luria, Anne H. ;
Ware, James S. ;
Hill, Andrew J. ;
Cummings, Beryl B. ;
Tukiainen, Taru ;
Birnbaum, Daniel P. ;
Kosmicki, Jack A. ;
Duncan, Laramie E. ;
Estrada, Karol ;
Zhao, Fengmei ;
Zou, James ;
Pierce-Hollman, Emma ;
Berghout, Joanne ;
Cooper, David N. ;
Deflaux, Nicole ;
DePristo, Mark ;
Do, Ron ;
Flannick, Jason ;
Fromer, Menachem ;
Gauthier, Laura ;
Goldstein, Jackie ;
Gupta, Namrata ;
Howrigan, Daniel ;
Kiezun, Adam ;
Kurki, Mitja I. ;
Moonshine, Ami Levy ;
Natarajan, Pradeep ;
Orozeo, Lorena ;
Peloso, Gina M. ;
Poplin, Ryan ;
Rivas, Manuel A. ;
Ruano-Rubio, Valentin ;
Rose, Samuel A. ;
Ruderfer, Douglas M. ;
Shakir, Khalid ;
Stenson, Peter D. ;
Stevens, Christine ;
Thomas, Brett P. ;
Tiao, Grace ;
Tusie-Luna, Maria T. ;
Weisburd, Ben ;
Won, Hong-Hee ;
Yu, Dongmei ;
Altshuler, David M. .
NATURE, 2016, 536 (7616) :285-+
[6]   The GWAS Diversity Monitor tracks diversity by disease in real time [J].
Mills, Melinda C. ;
Rahal, Charles .
NATURE GENETICS, 2020, 52 (03) :242-243
[7]   Evaluating drug targets through human loss-of-function genetic variation [J].
Minikel, Eric Vallabh ;
Karczewski, Konrad J. ;
Martin, Hilary C. ;
Cummings, Beryl B. ;
Whiffin, Nicola ;
Rhodes, Daniel ;
Alfoldi, Jessica ;
Trembath, Richard C. ;
van Heel, David A. ;
Daly, Mark J. ;
Schreiber, Stuart L. ;
MacArthur, Daniel G. .
NATURE, 2020, 581 (7809) :459-+
[8]   Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity [J].
Saleheen, Danish ;
Natarajan, Pradeep ;
Armean, Irina M. ;
Zhao, Wei ;
Rasheed, Asif ;
Khetarpal, Sumeet A. ;
Won, Hong-Hee ;
Karczewski, Konrad J. ;
O'Donnell-Luria, Anne H. ;
Samocha, Kaitlin E. ;
Weisburd, Benjamin ;
Gupta, Namrata ;
Zaidi, Mozzam ;
Samuel, Maria ;
Imran, Atif ;
Abbas, Shahid ;
Majeed, Faisal ;
Ishaq, Madiha ;
Akhtar, Saba ;
Trindade, Kevin ;
Mucksavage, Megan ;
Qamar, Nadeem ;
Zaman, Khan Shah ;
Yaqoob, Zia ;
Saghir, Tahir ;
Rizvi, Syed Nadeem Hasan ;
Memon, Anis ;
Mallick, Nadeem Hayyat ;
Ishaq, Mohammad ;
Rasheed, Syed Zahed ;
Memon, Fazal-ur-Rehman ;
Mahmood, Khalid ;
Ahmed, Naveeduddin ;
Do, Ron ;
Krauss, Ronald M. ;
MacArthur, Daniel G. ;
Gabriel, Stacey ;
Lander, Eric S. ;
Daly, Mark J. ;
Frossard, Philippe ;
Danesh, John ;
Rader, Daniel J. ;
Kathiresan, Sekar .
NATURE, 2017, 544 (7649) :235-+
[9]   Characterization of Greater Middle Eastern genetic variation for enhanced disease gene iscovery [J].
Scott, Eric M. ;
Halees, Anason ;
Itan, Yuval ;
Spencer, Emily G. ;
He, Yupeng ;
Azab, Mostafa Abdellateef ;
Gabriel, Stacey B. ;
Belkadi, Aziz ;
Boisson, Bertrand ;
Abel, Laurent ;
Clark, Andrew G. ;
Alkurayal, Fowzan S. ;
Casanova, Jean-Laurent ;
Gleeson, Joseph G. .
NATURE GENETICS, 2016, 48 (09) :1071-+
[10]   Revisiting disease genes based on whole-exome sequencing in consanguineous populations [J].
Shamia, Ahmed ;
Shaheen, Ranad ;
Sabbagh, Nouran ;
Almoisheer, Agaadir ;
Halees, Anason ;
Alkuraya, Fowzan S. .
HUMAN GENETICS, 2015, 134 (09) :1029-1034