Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs

Purpose: Genetic variation underlying rare diseases in Arab populations is poorly understood limiting effective carrier screening for recessive disorders, which are prevalent because of high consanguineous rates. Methods: Using the American College of Medical Genetics and Genomics/Association for Mo...

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Main Authors: Ruchi Jain, Sami Bizzari, Sathishkumar Ramaswamy, Khaleem F. Hasham, Shruti Sinha, Ikram Chekroun, Fatma Rabea, Eman Abuijlan, Maha El Naofal, Massomeh Sheikh Hassani, Shruti Shenbagam, Alan Taylor, Mohammed Uddin, Mohamed Almarri, Omer Alkhnbashi, Hamda Khansaheb, Hanan Al Suwaidi, Stefan S. Du Plessis, Stephany El-Hayek, Alawi Alsheikh-Ali, Ahmad Abou Tayoun
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
Consanguinity
Exome sequencing
Genetic variation
Middle East
Rare genetic disorders
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425014852
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