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 positive diagnosis rates in WES.
- Phenotype-led case selection supports more efficient diagnostic decisions.
- These insights reflect real clinical practice across the MENA region.
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 MENA patients.