Article
Patterns and distribution of de novo mutations in multiplex Middle Eastern families.
Journal of human genetics - 1 Oct 2022
Kohailan Muhammad, Aamer Waleed, Syed Najeeb, Padmajeya Sujitha, Hussein Sura, Sayed Amira, Janardhanan Jyothi, Palaniswamy Sasirekha, El Hajj Nady, Al-Shabeeb Akil Ammira, Fakhro Khalid A
Abstract excerpt
While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a high number of rare disorders. To date, no study has systematically examined the rate and distribution of DNMs in multiplex families in highly consanguineous populations. Leveraging WGS profiles of 645 individuals in 146 families, we implemented a combinatorial approach using 3 complementary tools for DNM discovery in 353...
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