The application of Next-Generation Sequencing (NGS) in cancer research, mainly through whole genome, whole exome, and transcriptome sequencing, provides a global view of the cancer genome and has resulted in a huge expansion in our knowledge of the genomic alterations responsible for cancer development. NGS technologies allow for the detection of point mutations, insertions or deletions, copy number variants and structural variants, leading to an understanding of the underlying molecular mechanisms of oncogenesis, metastasis, and tumour complexity and heterogeneity. This information can be used to inform treatment options and prevention strategies.
In addition to the genomic alterations involved, RNA sequencing can detect differential expression, alternative splicing, RNA editing and fusion transcripts. Epigenetic changes such as DNA methylation and histone modification add another layer of complexity and can also play a major role in the genomic landscape of cancer. Epigenetic changes can be analysed with techniques such as bisulfite sequencing and ChIP-seq. In combination with the data produced from RNA sequencing, this information can provide insight into patterns of gene expression and silencing.
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