Application of Next-Generation Sequencing in the Era of Precision Medicine

Abstract

Next-generation sequencing (NGS) technologies represented the next step in the evolution of DNA sequencing, through the generation of thousands to millions of DNA sequences in a short time. The relatively fast emergence and success of NGS in research revolutionized the ield of genomics and medical diagnosis. The traditional medicine model of diagnosis has changed to one precision medicine model, leading to a more accurate diagnosis of human diseases and allowing the selection of molecular target drugs for individual treatment. This chapter atempts to review the main features of NGS technique (concepts, data analysis, applications, advances and challenges), starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms. Further topics will highlight the application of NGS towards routine practice, including variant detection, whole-exome sequencing (WES), whole-genome sequencing (WGS), custom panels (multi-gene), RNA-seq and epigenetic. The potential use of NGS in precision medicine is vast and a beter knowledge of this technique is necessary for an eicacious implementation in the clinical workplace. A centralized chapter describing the main NGS aspects in the clinic could help beginners, scientists, researchers and health care professionals, as they will be responsible for translating genomic data into genomic medicine.

Next Generation Sequencing Technology in Lung Cancer Diagnosis

“…The NGS technique was developed to overcome the Sanger sequencing limitation, but it evolved into being used in all areas of genomic research, starting with DNA, RNA, miRNA, ChIP and methylation sequencing [ 19 , 20 , 21 ]. As with any technique, NGS has multiple advantages that have made it an essential tool in all areas of research and in the clinic [ 22 ]. However, even after over 15 years of development, this technique has some disadvantages, such as the need for powerful bioinformatics tools and specialized personnel for both experimental and data analysis [ 20 ].…”

Optimizing DNA recovery and forensic typing of degraded blood and dental remains using a specialized extraction method, comprehensive qPCR sample characterization, and massively parallel sequencing

“…Massively parallel sequencing (MPS) technology has replaced Sanger sequencing in basic science and in medical and diagnostic fields [11][12][13][14][15][16][17][18][19][20][21]. Advantages of MPS in forensic applications include high-throughput processing, simultaneous detection of STRs on autosomes and sex chromosomes, analysis of identity informative SNPs (iiSNPs) and SNPs related to biogeographical ancestry (aiSNPs) and physical traits (phenotypes; piSNPs), and ability to distinguish between alleles that are identical by CE-based sizing.…”

Genomic Interventions in Medicine

“… 9 Development of DNA sequencing technologies such as next-generation sequencing (NGS; also referred to as massively parallel sequencing) has enhanced the application of genomic sequencing in diagnostics and medical practice. 10 Clinical applications of genomics focus on information obtained from variations in one or several loci and strong interrelationship with environmental factors that are generally established, which include diet, drugs, infectious agents, chemicals, behavioral factors, and physical agents. 11 The quantum leap in the understanding of relationships between genetic variation and human disease indicates that the long-awaited genomic era has begun.…”