Article
Burden of Mendelian disorders in a large Middle Eastern biobank.
Genome medicine - 8 Apr 2024
Aamer Waleed, Al-Maraghi Aljazi, Syed Najeeb, Gandhi Geethanjali Devadoss, Aliyev Elbay, Al-Kurbi Alya A, Al-Saei Omayma, Kohailan Muhammad, Krishnamoorthy Navaneethakrishnan, Palaniswamy Sasirekha, Al-Malki Khulod, Abbasi Saleha, Agrebi Nourhen, Abbaszadeh Fatemeh, Akil Ammira S Al-Shabeeb, Badii Ramin, Ben-Omran Tawfeg, Lo Bernice, Mokrab Younes, Fakhro Khalid A
Abstract excerpt
BACKGROUND: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies. METHODS: Here, we interrogate 6045 whole genomes from Qatar-a Middle Eastern population with high consanguinity and understudied mutational burden-enrolled at the national Biobank and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.