Assessment and Application of Quality Control Strategies in Next-Generation Sequencing Data for Pediatric Cancer

Next-generation sequencing (NGS) has transformed pediatric oncology by enabling precise genetic profiling of various cancers, crucial for developing targeted diagnostics and treatments. However, the extensive data produced necessitates stringent quality control (QC) to ensure accuracy and reliability, pivotal for clinical implementation. This paper reviews current QC tools and bioinformatics pipelines employed in pediatric cancer NGS analysis, emphasizing the roles of tools such as FastQC, Picard, SAMtools, and GATK. These tools assess data quality at multiple stages, helping to address challenges unique to pediatric cancer NGS, such as high specificity requirements and small sample sizes. We highlight the need for further research to develop advanced bioinformatics solutions tailored for pediatric oncology and for standardizing QC protocols to enhance data reproducibility across studies. Enhanced bioinformatics tools are essential for exploiting the full potential of NGS in improving diagnostic precision and treatment customization in pediatric oncology.