BlogDiscover Insightful Articles on Rare Diseases

• All posts
• Insights
• Genetic test
• Rare disease series
• Diagnostic story
• Interview

• How do you decide between blood or buccal swab collection?

  Insights | 21. 12. 08

• Limitations of Whole Exome Sequencing

  Insights | 21. 11. 29

• In what cases would it be better to conduct WES-based genetic testing for the diagnosis of rare diseases?

  Insights | 21. 11. 29

• What are the ACMG Standards and Guidelines and how do they work?

  Insights | 21. 11. 19

• Why do WES test results vary despite the same sequencing method?

  Insights | 21. 11. 08

• What is Variant Specific Testing?

  Insights | 21. 11. 08

1. 
2. 1
3. 
4. 14
5. 15
6. 16
7. 17
8. 18