| Autor: |
Mayer, K., Scholz, M., Peterson, L. |
| Předmět: |
|
| Zdroj: |
Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p |
| Abstrakt: |
This article discusses the advancements in molecular genetic testing for Tuberous Sclerosis Complex (TSC). In the past, sequencing and deletion/duplication analysis of specific coding regions were used for testing. However, recent developments in next-generation sequencing (NGS) and bioinformatic dosage analysis have improved variant detection. The study found that deep NGS of the entire genomic TSC gene regions led to the identification of challenging variants in patients with no mutation identified (NMI) cases. This approach has proven to be more effective in detecting TSC variants compared to analyzing only the coding regions. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
