| Autor: |
Koehler, U., Barseghyan, H., Eisenreich, D., Lindt, E., Sendelbach, K., Erdmann, H., Neuhann, T., Holinski-Feder, E., Abicht, A. |
| Předmět: |
|
| Zdroj: |
Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p |
| Abstrakt: |
This article, published in the journal Neuropediatrics, explores the use of optical genome mapping (OGM) as a potential routine clinical test for diagnosing genetic conditions. The authors conducted a validation study using 72 samples with known diagnoses and found that OGM was 97% concordant with previous diagnoses. They also tested 20 undiagnosed cases and identified potentially pathogenic deletions and insertions in disease-causing genes. Overall, the study demonstrates that OGM can detect large structural variants, has high concordance with other cytogenetic methods, and can provide diagnoses in cases where other tests are uninformative. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
