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

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

AMERICAN JOURNAL OF HUMAN GENETICS（2019）

Cited 221|Views60

Key words

exome,clinical genomics,candidate genes,first-tier,genomics-first,phenotypic expansion,prenatal,fetal malformation,knockout,autozygome,gonadal mosaicism,expanded carrier screening,multilocus phenotypes,hybrid phenotype,dual diagnosis

AI Read Science

Must-Reading Tree

Example

Generate MRT to find the research sequence of this paper

Chat Paper

Summary is being generated by the instructions you defined