Gold-standard and state-of-the-art procedures and pipelines are urgently needed to accelerate this transition. Many technical and analytical obstacles still remain and need to be discussed and addressed before large-scale and cross-centre implementation. However, its transition to routine clinical use has been slow. As a result, TS has been widely used in clinical research and trials for patient stratification and the development of targeted therapeutics. This allows targeted sequencing to identify low frequency variants in targeted regions with high confidence, thus suitable for profiling low-quality and fragmented clinical DNA samples. In contrast to whole-genome (WGS) or whole-exome sequencing (WES), targeted genomic sequencing (TS) focuses on a panel of genes or targets known to have strong associations with pathogenesis of disease and/or clinical relevance, offering greater sequencing depth with reduced costs and data burden. Next Generation Sequencing (NGS) has dramatically improved the flexibility and outcomes of cancer research and clinical trials, providing highly sensitive and accurate high-throughput platforms for large-scale genomic testing.

Targeted genomic sequence analysis