P576: Never stop looking: Dual diagnoses due to updated gene-disease relationships in exome patients
Abstract
Clinical exome data covers so much of the genome that revisiting the sequence files over time can uncover new findings, even in patients with a clinically actionable variant and an apparently complete molecular diagnosis. As new gene-disease relationships (GDRs) are established, additional findings identified through reanalysis can be interpreted as clinically relevant, leading to the addition of a second diagnosis.
Fields of Study & Subjects
Genomics and Rare Diseases
Connective tissue disorders research
Metabolism and Genetic Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104067–104067
- Publication date
- 1 January 2026
- Language
- EN