Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever
Background: Long-read sequencing technology, widely used in research, is proving useful in clinical diagnosis, especially for infectious diseases. Despite recent advances, it hasn't been routinely applied to constitutional human diseases. Long-read sequencing detects intronic variants and phase...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-08-01
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| Series: | Practical Laboratory Medicine |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352551724000696 |