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.
When Should We Consider WES/WGS in Pediatric Patients? — Based on the 2021 ACMG Guidelines
Genetic test | 26. 04. 02
The Risk of Relying on a Single Genetic Assay : Lessons from Newborn Screening for SMA
Insights | 26. 03. 06
Rapid WGS for NICU Patients: When time determines survival, how fast can genomic diagnosis be?
Genetic test | 26. 02. 27
Family Testing: When and Why Is It Necessary?
Genetic test | 26. 01. 28
Why Can’t All Variants Be Confirmed by Sanger Sequencing?
Genetic test | 26. 01. 22
The Geneticist’s “Third Eye”: AI Automated Reanalysis for New Diagnostic Insights
Genetic test | 25. 12. 11