What You’ll Find in This Resource
- Top 15 phenotypes ranked by positive WES diagnosis rate
- Corresponding HPO terms for each phenotypes
- Comparison of phenotype occurrence vs. diagnostic yield
- Insights derived from clinician-reported phenotypes
Key Takeaways
- Certain phenotypes show higher diagnostic yield in WES.
- Phenotype-led testing supports more confident clinical decision-making.
- These insights reflect real-world genetic testing practices across Europe.
About the Data
This summary is based on whole exome sequencing (WES) tests ordered through 3billion between November 2019 and April 2025.
Insights are drawn from phenotypes provided by clinicians and analyzed against confirmed positive diagnoses in European patients.