BlogDiscover Insightful Articles on Rare Diseases

Sohyun Lee
Clinical Genomics Scientist & Clinical Customer Support — guiding test selection, supporting variant and result interpretation, handling case inquiries, and translating field insights into service improvements.
What Is Genetic Phasing and Why Is It Important for Rare Disease Diagnosis?
Insights | 26. 07. 01
VUS: How Far Can We Interpret It? [Part 2]
Insights | 26. 07. 01
Quantitative Interpretation of ACMG/AMP Variant Classification [Part 1]
Insights | 26. 06. 19
Differences Between Raw Data and Clinical Reports | NGS Data Analysis Workflow [Part 2]
Genetic test | 26. 05. 07
How is NGS data actually generated? | NGS Data Analysis Workflow [Part 1]
Insights | 26. 04. 24
When Should We Consider WES/WGS in Pediatric Patients? — Based on the 2021 ACMG Guidelines
Genetic test | 26. 04. 02