Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Autor: Malak Alghamdi, Susan Alhumaidi, Saeed Altala, Mirna Assoum, Aziza Chedrawi, Moeen Al-Sayed, Hisham Aldhalaan, Suzan A AlKhater, M. Abouelhoda, Turki Alshareef, Maha Alotaibi, Khalid S. Alqadi, Alya Alkaff, Syed Ahmed, Musad Abu Khaled, Suad Al Yamani, Bassem Albeirouti, Ali Al-Mehaidib, Walaa Alshuaibi, Nawal Makhseed, Ghada M H Abdel-Salam, Ewa Goljan, Zuhair Rahbeeni, Maisoon Almugbel, Shaza Makki, Ranad Albar, Fuad Al Mutairi, Khalid Alsaleem, Hanaa Banjar, Fahad A. Bashiri, Abdulaziz Bin Manee, Mona Alsaleh, Marwan Shaheen, Mohammed Fawzy, Sami Wali, Fahad Almohareb, Hisham Alkuraya, Shakir Bahzad, Ayman Shawli, Wesam Kurdi, Wajeeh Aldekhail, Somaya Alzelaye, Rand Arnaout, Abdullah Alsonbul, Sami Al-Hajjar, Saeed Hassan, Sameena Khan, Mohammed AlBalwi, Khalid Awartani, Sulaiman M. Al-Mayouf, Amal Alhashem, Hamoud Al-Mousa, Abdulaziz Alsemari, Hadeel Elbardisy, Mohamed El-Kalioby, Edward Cupler, Bandar Al-Saud, Hadeel Alghamdi, Isam Salih, Saadeh Sermin, Fahad Alsohaibaini, Shapar Nahrir, Hibah Alruwaili, Hamad Al-Zaidan, Nada Alsahan, Abdullah Alfaifi, Dalal K. Bubshait, Mohammed Nasr, Ahmed Alnahari, Ameen Tajuddin, Maged H. Hussein, Muddathir H Hamad, Asma Akilan, Afaf Alsagheir, Dorota Monies, Shamsad Shahrukh, Emadia Alaki, Tariq Abalkhail, Ahmed Sahly, Hamsa T. Tayeb, Badi Alenazi, Fowzan S. Alkuraya, Mohammed Al-Owain, Mohammed Abanemai, Ali Al-Ahmari, Maha Faden, Neama Meriki, Amal Alqasmi, Talal A. Basha, Hatem Murad, Hanna Akleh, Nabil Moghrabi, Asma I. Tahir, Abdulhadi Altalhi, Amal Jaafar, Ola Jarrad, Salah Baz, Abdullah Tamim, Ibraheem F. Abosoudah, Shazia Subhani, Manal Badawi, Raashida Sulaiman, Essam Al-Sabban, Brian F. Meyer, Talal Algoufi, Alya Qari, Mohammed Mahnashi, Hasan Al-Dhekri, Saeed Bohlega, Rafiullah Rafiullah, Naif A.M. Almontashiri, Mustafa A. Salih, Shahrukh K. Hashmi, Ibrahim Ghemlas, Zeeshan Shah, Abdullah Alashwal, Ehab Tous

Publikováno v: The American Journal of Human Genetics. 105:879

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0365855d2d5af752e8f99d9baffcda1e
https://doi.org/10.1016/j.ajhg.2019.09.019