The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, Dorota; Abouelhoda, Mohamed; AlSayed, Moeenaldeen; N. Al‐Hassnan, Zuhair; Alotaibi, Maha; Kayyali, Husam; Al‐Owain, Mohammed; Shah, Ayaz; Rahbeeni, Zuhair; A. Al–Muhaizea, Mohammad; Alzaidan, Hamad; Cupler, Edward; Bohlega, Saeed; Faqeih, Eissa; Faden, Maha; Al‐Younes, Banan; Jaroudi, Dyala; Goljan, Ewa; Elbardisy, Hadeel; Akilan, Asma; Albar, Renad; Aldhalaan, Hesham; Gulab, Shamshad; Chedrawi, Aziza; K. Al Saud, Bandar; Kurdi, Wesam; Makhseed, Nawal; Alqasim, Tahani; Y. El Khashab, Heba; Al‐Mousa, Hamoud; Alhashem, Amal; Kanaan, Imaduddin; Algoufi, Talal; A. Alsaleem, Khalid; A. Basha, Talal; Al-Murshedi, Fathiya; Khan, Sameena; Al‐Kindy, Adila; Alnemer, Maha; Al-Hajjar, Sami; Alyamani, Suad; Al‐Dhekri, Hasan; Almehaidib, Ali; Arnaout, Rand; Dabbagh, Omar; Shagrani, Mohammad; Broering, Dieter; Tulbah, Maha; AlQassmi, Amal; Almugbel, Maisoon; Alquaiz, Mohammed; Alsaman, Abdulaziz; Al‐Thihli, Khalid; A. Sulaiman, Raashda; Aldekhail, Wajeeh; Al‐Saegh, Abeer; A. Bashiri, Fahad; Qari, Alya; Alhomadi, Suzan; Alkuraya, Hisham; Al‐Sebayel, Mohammed; H. Hamad, Muddathir; Szönyi, László; Abaalkhail, Faisal; M. Al‐Mayouf, Sulaiman; Al‐Mojalli, Hamad; Alqadi, Khalid; Elsiesy, Hussien; Shuaib, Taghreed; Zain Seidahmed, Mohammed; Abosoudah, Ibraheem; Akleh, Hana; Al‐Ghonaium, Abdulaziz; M. Al-Kharfy, Turki; Al Mutairi, Fuad; Eyaid, Wafa; Alshanbary, Abdullah; Sheikh, Farrukh; Alsohaibani, Fahad; Alsonbul, Abdullah; Al Tala, Saeed; Balkhy, Soher; Bassiouni, Randa; Alenizi, Ahmed; H. Hussein, Maged; Hassan, Saeed; M.I. Khalil, Mohamed; Tabarki, Brahim; AlShahwan, Saad; Amira, Oshi; Sabr, Yasser; Alsaadoun, Saad; A. Salih, Mustafa; Mohamed, Sarar; Sultana, Habiba; Tamim, Abdullah; El-Haj, Moayad; Alshahrani, Saif; Bubshait, Dalal; Alfadhel, Majid; Faquih, Tariq; El-Kalioby, Mohamed; Subhani, Shehryar; Shah, Zeeshan; Moghrabi, Nabil; F. Meyer, Brian; S. Alkuraya, Fowzan

doi:10.1007/s00439-017-1821-8

Public

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Published in Human Genetics • Jun 9, 2017

Authors:

Dorota Monies

Mohamed Abouelhoda

Moeenaldeen AlSayed

Abstract

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 so...

Subject

Exome sequencing

Biology

Genetics

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