| Předmět: |
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| Zdroj: |
Genomics & Genetics Weekly; 6/21/2024, p1482-1482, 1p |
| Abstrakt: |
A study conducted by Yonsei University College of Medicine in South Korea explored the use of clinician-driven reanalysis of exome sequencing data to improve the diagnosis of inherited retinal diseases (IRD). The study involved 264 patients with IRD and found that clinician-driven reanalysis identified the molecular cause of the disease in an additional 22 patients, resulting in an 8.3% increase in the diagnostic rate. Factors associated with new molecular diagnoses included updates in clinical phenotype and the detection of previously overlooked genetic variations. This approach is important for uncovering missed genetic causes of retinal disease. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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