Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases
Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in medicine has greatly enhanced diagnostic rates of g...
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| Main Authors: | , , , |
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| Format: | Book |
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Permanyer,
2022-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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