What Challenges Exist in Variant Annotation for Pediatric Patients?
Several challenges can complicate variant annotation in pediatric patients: - Variants of Uncertain Significance (VUS): Many identified variants have unclear implications, making it difficult to interpret their clinical significance. - Limited Pediatric-Specific Data: Most genetic databases are skewed towards adult populations, and pediatric-specific data is often limited. - Ethnic Diversity: Genetic diversity among different ethnic groups can affect the interpretation of variant pathogenicity. - Rapidly Evolving Knowledge: The field of genomics is rapidly evolving, and new discoveries can quickly change the understanding of a variant's significance.
