Despite advancements, several challenges remain in mutation detection:
Heterogeneity: Tumors are often composed of diverse cell populations with different genetic profiles, making it difficult to identify all relevant mutations. Quality of Samples: The accuracy of mutation detection depends on the quality of the DNA/RNA samples, which can be compromised by factors such as tissue preservation methods. Data Interpretation: The vast amount of data generated by techniques like NGS requires sophisticated bioinformatics tools and expertise to interpret correctly.
