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

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2,200 previously unpublished Saudi families as a first-tier test.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 propose to be recessive, disease-related candid...

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Publicat a:Am J Hum Genet
Autors principals: Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Althagafi, Malak, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6562004/
https://ncbi.nlm.nih.gov/pubmed/31130284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.04.011
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