Literature DB >> 33371902

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

Ahmad N Abou Tayoun1,2, Heidi L Rehm3,4,5.   

Abstract

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.

Entities:  

Year:  2020        PMID： 33371902      PMCID： PMC7768658          DOI： 10.1186/s13073-020-00821-7

Source DB:  PubMed          Journal:  Genome Med        ISSN： 1756-994X            Impact factor:   11.117


  10 in total

1.  Revisiting disease genes based on whole-exome sequencing in consanguineous populations.

Authors:  Ahmed Shamia; Ranad Shaheen; Nouran Sabbagh; Agaadir Almoisheer; Anason Halees; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2015-07-04       Impact factor: 4.132

2.  The GWAS Diversity Monitor tracks diversity by disease in real time.

Authors:  Melinda C Mills; Charles Rahal
Journal:  Nat Genet       Date:  2020-03       Impact factor: 38.330

3.  Revisiting the morbid genome of Mendelian disorders.

Authors:  Mohamed Abouelhoda; Tariq Faquih; Mohamed El-Kalioby; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2016-11-24       Impact factor: 13.583

4.  Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Authors:  Danish Saleheen; Pradeep Natarajan; Irina M Armean; Wei Zhao; Asif Rasheed; Sumeet A Khetarpal; Hong-Hee Won; Konrad J Karczewski; Anne H O'Donnell-Luria; Kaitlin E Samocha; Benjamin Weisburd; Namrata Gupta; Mozzam Zaidi; Maria Samuel; Atif Imran; Shahid Abbas; Faisal Majeed; Madiha Ishaq; Saba Akhtar; Kevin Trindade; Megan Mucksavage; Nadeem Qamar; Khan Shah Zaman; Zia Yaqoob; Tahir Saghir; Syed Nadeem Hasan Rizvi; Anis Memon; Nadeem Hayyat Mallick; Mohammad Ishaq; Syed Zahed Rasheed; Fazal-Ur-Rehman Memon; Khalid Mahmood; Naveeduddin Ahmed; Ron Do; Ronald M Krauss; Daniel G MacArthur; Stacey Gabriel; Eric S Lander; Mark J Daly; Philippe Frossard; John Danesh; Daniel J Rader; Sekar Kathiresan
Journal:  Nature       Date:  2017-04-12       Impact factor: 49.962

5.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

6.  Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.

Authors:  Wenqing Fu; Timothy D O'Connor; Goo Jun; Hyun Min Kang; Goncalo Abecasis; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; David Altshuler; Jay Shendure; Deborah A Nickerson; Michael J Bamshad; Joshua M Akey
Journal:  Nature       Date:  2012-11-28       Impact factor: 49.962

7.  Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Authors:  Ahmed B Alsalem; Anason S Halees; Shamsa Anazi; Shomoukh Alshamekh; Fowzan S Alkuraya
Journal:  PLoS Genet       Date:  2013-12-19       Impact factor: 5.917

8.  Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Authors:  Eric M Scott; Anason Halees; Yuval Itan; Emily G Spencer; Yupeng He; Mostafa Abdellateef Azab; Stacey B Gabriel; Aziz Belkadi; Bertrand Boisson; Laurent Abel; Andrew G Clark; Fowzan S Alkuraya; Jean-Laurent Casanova; Joseph G Gleeson
Journal:  Nat Genet       Date:  2016-07-18       Impact factor: 38.330

9.  Evaluating drug targets through human loss-of-function genetic variation.

Authors:  Eric Vallabh Minikel; Konrad J Karczewski; Hilary C Martin; Beryl B Cummings; Nicola Whiffin; Daniel Rhodes; Jessica Alföldi; Richard C Trembath; David A van Heel; Mark J Daly; Stuart L Schreiber; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 49.962

10.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504
  10 in total
  10 in total

Review 1.  Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide.

Authors:  Evangelia Eirini Tsermpini; Zeina N Al-Mahayri; Bassam R Ali; George P Patrinos
Journal:  Hum Genet       Date:  2021-10-01       Impact factor: 4.132

2.  Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.

Authors:  Nour Halabi; Sathishkumar Ramaswamy; Maha El Naofal; Alan Taylor; Sawsan Yaslam; Ruchi Jain; Roudha Alfalasi; Shruti Shenbagam; Martin Bitzan; Lemis Yavuz; Hamda Abulhoul; Shiva Shankar; Dalwinder Janjua; Devendrasing Jadhav; Munira Mahmoud Al Maazmi; Walid Abuhammour; Alawi Alsheikh-Ali; Mohamed Al Awadhi; Abdulla Al Khayat; Ahmad N Abou Tayoun
Journal:  Genome Med       Date:  2022-05-24       Impact factor: 15.266

Review 3.  Generalizability of GWA-Identified Genetic Risk Variants for Metabolic Traits to Populations from the Arabian Peninsula.

Authors:  Prashantha Hebbar; Mohamed Abu-Farha; Jehad Abubaker; Arshad Mohamed Channanath; Fahd Al-Mulla; Thangavel Alphonse Thanaraj
Journal:  Genes (Basel)       Date:  2021-10-18       Impact factor: 4.096

Review 4.  Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Authors:  Sami Bizzari; Pratibha Nair; Asha Deepthi; Sayeeda Hana; Mahmoud Taleb Al-Ali; André Megarbané; Stephany El-Hayek
Journal:  Genes (Basel)       Date:  2021-09-27       Impact factor: 4.096

5.  Admixture Mapping of Sepsis in European Individuals With African Ancestries.

Authors:  Tamara Hernandez-Beeftink; Itahisa Marcelino-Rodríguez; Beatriz Guillen-Guio; Héctor Rodríguez-Pérez; Jose M Lorenzo-Salazar; Almudena Corrales; Ana Díaz-de Usera; Rafaela González-Montelongo; David Domínguez; Elena Espinosa; Jesús Villar; Carlos Flores
Journal:  Front Med (Lausanne)       Date:  2022-03-08

6.  Pharmacogenomics implementation in cardiovascular disease in a highly diverse population: initial findings and lessons learned from a pilot study in United Arab Emirates.

Authors:  Zeina N Al-Mahayri; Lubna Q Khasawneh; Mais N Alqasrawi; Sahar M Altoum; Gohar Jamil; Sally Badawi; Dana Hamza; Lizy George; Anwar AlZaabi; Husam Ouda; Fatma Al-Maskari; Juma AlKaabi; George P Patrinos; Bassam R Ali
Journal:  Hum Genomics       Date:  2022-09-25       Impact factor: 6.481

Review 7.  A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting.

Authors:  Alan Taylor; Zeinab Alloub; Ahmad Abou Tayoun
Journal:  Genes (Basel)       Date:  2021-05-27       Impact factor: 4.096

8.  Common disease-associated gene variants in a Saudi Arabian population.

Authors:  Mariam Aleissa; Taghrid Aloraini; Lamia Fahad Alsubaie; Madawi Hassoun; Ghada Abdulrahman; Abdulrahman Swaid; Wafa Al Eyaid; Fuad Al Mutairi; Faroug Ababneh; Majid Alfadhel; Ahmed Alfares
Journal:  Ann Saudi Med       Date:  2022-02-03       Impact factor: 1.526

9.  Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Authors:  Sathishkumar Ramaswamy; Ruchi Jain; Maha El Naofal; Nour Halabi; Sawsan Yaslam; Alan Taylor; Ahmad Abou Tayoun
Journal:  J Pers Med       Date:  2022-03-09

10.  The genomic history of the Middle East.

Authors:  Mohamed A Almarri; Marc Haber; Reem A Lootah; Pille Hallast; Saeed Al Turki; Hilary C Martin; Yali Xue; Chris Tyler-Smith
Journal:  Cell       Date:  2021-08-04       Impact factor: 41.582
  10 in total

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