Patterns and distribution of de novo mutations in multiplex Middle Eastern families

Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Sujitha Padmajeya, Sura Hussein, Amira Sayed, Jyothi Janardhanan, Sasirekha Palaniswamy, Nady El hajj, Ammira Al-Shabeeb Akil & Khalid A. Fakhro
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 unique trio combinations. We found a total of 27,168 DNMs (median:...
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