ABSTRACT

Next-generation sequencing (NGS) technology provides now the ability for cost-effective, accurate sequencing of both targeted partial sequencing of exome (set of exons [protein-coding genes]) and complete genome sequencing including non-coding region. Comparing with currently released reference database of human health genome sequencing, NGS permits the identification of inherited and somatic variants (SNPs, copy-number changes and genomic rearrangements) involved in common major diseases such as cancer, cardiovascular events, diabetes and others. In addition, epigenetic changes –chemical modification of DNA that regulate gene expression without changing gene structure- may also contribute to phenotype and disease heterogeneity. Here it is discussed the rationale, the strategies and challenges by using NGS and bisulfite sequencing for detecting DNA methylation. Moreover it is discussed how the future advances in simultaneously reading both genome and epigenome will change medical practice improving health.

(Citation: Gastric & Breast Cancer 2010; 9(4): 150-156)

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