P582: Reading between the repeats: Clinical long read sequencing for tandem repeat disorders
Abstract
Tandem repeat disorders (TRDs) are a unique set of Mendelian diseases defined by an abnormal expansion of repetitive sequence of various sizes and specific genes. TRDs are clinically heterogenous, diverse and complex, each with a specific molecular mechanism leading to gene dysfunction. Clinical ascertainment can be difficult. This is chiefly due to anticipation, reduced penetrance and somatic instability, but also because advances in sequencing technology have accelerated the discovery of additional TRDs further broadening prevalence estimates of disease that may not have been previously appreciated.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetic Neurodegenerative Diseases
Genetics and Neurodevelopmental Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104073–104073
- Publication date
- 1 January 2026
- Language
- EN