| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5513911 | Molecular Genetics and Metabolism | 2017 | 5 Pages |
Abstract
The diagnostic yield from WES in our unselected cohort is similar to other studies from the same region, which is a higher yield compared to other international regions largely because of the high rate of consanguinity and partly due to simplified variant interpretation and classification in consanguineous unions.
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Authors
Ahmed Alfares, Majid Alfadhel, Tariq Wani, Saud Alsahli, Iram Alluhaydan, Fuad Al Mutairi, Ali Alothaim, Mohammed Albalwi, Lamia Al subaie, Saeed Alturki, Waleed Al-Twaijri, Muhammad Alrifai, Ahmed Al-Rumayya, Seham Alameer, Eissa Faqeeh, Ali Alasmari,