Abstrakt: |
A recent study conducted by Baylor University College of Medicine in Houston, Texas, compared the diagnostic yield of germline exome sequencing and panel sequencing in a diverse pediatric cancer population. The study found that approximately 18% of the participants had germline diagnostic findings, with no significant differences based on race or ethnicity. However, there was a higher proportion of participants with variants of uncertain significance (VUS) in Asian and African American populations. The researchers concluded that detecting copy number variants (CNVs) and rearrangements is critical for optimizing germline analysis in pediatric cancer populations. [Extracted from the article] |