Publications by authors named "Pedro Luis Gomez-Gonzalez"
J Thromb Haemost
March 2024
Article Synopsis
- Genetic diagnosis of inherited platelet disorders (IPDs) often relies on high-throughput sequencing (HTS), but this method can miss important genetic variations.
- This study evaluated nanopore long-read DNA sequencing as a more effective way to identify structural variants in patients previously diagnosed with Glanzmann thrombasthenia and Hermansky-Pudlak syndrome, where HTS had failed.
- Nanopore sequencing successfully uncovered complex genetic changes and allowed for detailed identification of variants, demonstrating its value as a complementary diagnostic tool for IPDs.
