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

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 indiv...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9510050/
https://www.ncbi.nlm.nih.gov/pubmed/35718832
http://dx.doi.org/10.1038/s10038-022-01054-9

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